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the number of patients identified with mutations in this gene has increased considerably&#46;</p><p class="elsevierStylePara">We describe the case of a family with a mutation of the UMOD gene that presents with great intra-familial phenotype variability in which genetic study has made early diagnosis of young family members possible&#46; In addition&#44; we review the literature on this entity and the cases described in the literature to date&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">CLINICAL CASE</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The index case is a male who began being seen in our centre at the age of 19 years due to a six-month history of general malaise and fatigue with alterations in renal function &#40;creatinine 1&#46;8mg&#47;dl&#41;&#46; He had a five-year history of hyperuricaemia with no episodes of gout that was controlled with allopurinol &#40;100mg&#47;day&#41;&#46; Ultrasound of the kidneys and bladder revealed a decrease in the size of both kidneys &#40;9-10cm&#41; and there was no proteinuria or haematuria in the urine sediment&#46; A renal biopsy &#40;Figure 1&#41; revealed non-specific changes&#58; 4 glomeruli were normal and 3 were sclerotic&#44; the tubules had an atrophic appearance and there was a lymphomononuclear infiltrate&#46; The vessels were not affected and immunofluorescence was negative&#46;</p><p class="elsevierStylePara">The patient had slowly-progressing renal failure and at 39 years of age he underwent a live-donor kidney transplant &#40;his wife&#41; without incident&#46; The patient is currently 42 years&#44; has very stable renal function with baseline creatinine levels of 1&#46;5mg&#47;dl-1&#46;7mg&#47;dl and is treated with allopurinol 100mg&#47;day&#46;</p><p class="elsevierStylePara">The family history indicates that various members of the family have renal involvement with hyperuricaemia with different levels of renal failures and polyuria with polydipsia &#40;Figure 2&#41; &#40;Table 1&#41;&#46; One brother &#40;III-2&#41;&#44; with chronic kidney disease and hyperuricaemia&#44; underwent a transplant at 47 years&#46; Another sister &#40;III-1&#41;&#44; also with chronic kidney disease and hyperuricaemia &#40;at 35 years of age she has a creatinine level of 1&#46;8mg&#47;dl&#41;&#46; The mother &#40;II-4&#41; of the three siblings also has chronic kidney disease&#44; started dialysis at 34 years of age and died at 66 years of age&#46;</p><p class="elsevierStylePara">The diagnosis of familial juvenile hyperuricaemic nephropathy was made by mutational analysis of the UMOD gene using direct sequencing of the 10 coding exons &#40;exon 2-exon 11&#41; from the genomic DNA of the index case&#46; Mutational analysis allowed for the identification of the c&#46;606G&#62;C &#40;pW202C&#41; sequence variant in heterozygosis &#40;Figure 3&#41;&#46; This variant is located in exon 3 of the UMOD gene and has not been described previously in the literature&#44; though another mutation that alters the same amino acid has been described &#91;c&#46;605G&#62;C &#40;p&#46;W202S&#41;<span class="elsevierStyleSup">2</span>&#93;&#46; The c&#47;606G&#62;C variant &#40;p&#46;W202C&#41; was not identified in more than 200 control chromosomes analysed and it alters the tryptophan 202 amino acid that is conserved in orthologous proteins&#46; In addition&#44; the segregation of this familial variant was studied and it was found to be shared by all of the affected members&#46; Different variant effect predictors &#40;Condel&#44; Sift&#44; Polyphen&#41; predicted that this is a pathogenic mutation&#46; Because of the above&#44; we concluded that the c&#46;606G&#62;C &#40;p&#46;W202C&#41; variant was very likely the causal pathogenic mutation for the disease&#46;</p><p class="elsevierStylePara">The diagnosis of this pathogenic mutation allowed for pre-symptomatic study of some of the young family members&#44; as is the case in individuals IV&#58;1 &#40;affected&#41; and IV&#58;2 &#40;not affected&#41;&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">DISCUSSION</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">Uromodulin &#40;UMOD&#41;&#44; or Tamm-Horsfall protein &#40;640 amino acids&#44; molecular weight 85-90kDa&#41;<span class="elsevierStyleSup">1</span> expressed in the ascending loop of Henle is the most abundant protein in urine under normal conditions&#46; Although its function has not been completely defined&#44; it has been associated with the impermeabilisation of the distal tubule&#44; a protective effect against urinary tract infections and renal lithiasis&#44; as well as pro-inflammatory activity&#46;<span class="elsevierStyleSup">3&#44;4</span> Dysfunction in this protein has been associated with the inability to concentrate urine and tubulointerstitial fibrosis&#46;<span class="elsevierStyleSup">3</span> Patients with a mutation of the UMOD gene have a decrease in the levels of this protein in the urine due to abnormal folding that leads to accumulation in tubular epithelial cells&#46;<span class="elsevierStyleSup">5</span> Although the pathologies caused by mutation of the UMOD gene are not generally included in the classification of ciliopathies&#44;<span class="elsevierStyleSup">6</span> some studies have been published in the literature that do demonstrate UMOD expression in the primary cilia&#46;<span class="elsevierStyleSup">7</span></p><p class="elsevierStylePara">Mutations of the UMOD gene &#40;chromosome region 16p2&#41;<span class="elsevierStyleSup">8&#44;9</span> are responsible for two tubulointerstitial nephropathies with an autosomal dominant inheritance pattern&#44; type 2 medullary cystic disease &#40;MCKD2&#41; &#91;OMIM 603860&#93; and familial juvenile hyperuricaemia &#40;OMIM 162000&#93;&#44; which is currently encompassed by the term &#8220;kidney disease caused by UMOD gene mutation&#8221;&#46;<span class="elsevierStyleSup">5&#44;10-14 A gene located at locus 1q21 MCKD1 &#91;OMIM 174000&#93;&#44; but not identified until now&#44;15-18</span> is also responsible for tubulointerstitial nephropathy with an autosomal dominant inheritance pattern&#46; It has a similar phenotype but an earlier presentation&#46;</p><p class="elsevierStylePara">Kidney disease caused by a mutation in the UMOD gene has a very low prevalence&#44; less than 1&#37; of end-stage kidney disease &#40;ESKD&#41; in adults&#44; though it may be underdiagnosed&#46;<span class="elsevierStyleSup">5</span> In our case series of familial nephropathies with clinical signs of hyperuricaemic interstitial nephropathy&#44; a mutation has been detected in the UMOD gene in 12&#46;5&#37; of cases &#40;unpublished data&#41;&#44; similar to those published in the literature&#46;<span class="elsevierStyleSup">19</span></p><p class="elsevierStylePara">Uromodulin deficiency causes a deficit in tubular reabsorption&#44; favouring polyuria and hyperuricaemia&#46;<span class="elsevierStyleSup">13</span> The fraction of excreted uric acid appears decreased early in life &#40;even in young patients with still-normal renal function&#41; and usually is less than 5&#37; in adult men and less than 6&#37; in adult women&#46;<span class="elsevierStyleSup">20</span> Uric acid levels above the 75<span class="elsevierStyleSup">th</span> percentile have been observed in more than 70&#37; of these patients&#46; Approximately 75&#37; of men and 50&#37; of women experience gout&#44;<span class="elsevierStyleSup">19</span> but cases have also been described in which blood uric acid levels remain normal&#44; especially in women&#46;<span class="elsevierStyleSup">21</span> The disproportion between hyperuricaemia and the degree of renal failure is notable&#46;<span class="elsevierStyleSup">19</span> All members of the family that were seen had hyperuricaemia since childhood and did not have a history of gout crisis&#46;</p><p class="elsevierStylePara">The renal failure is slowly progressive&#44; generally reaching the end stage between the fourth and sixth decades of life&#46;<span class="elsevierStyleSup">19</span> The urine sediment is non-productive &#40;proteinuria of less than 1g&#47;day may appear in ESRD stages&#41; and the kidney ultrasound usually reveals kidneys of reduced size and on some occasions may include medullary cysts &#40;this has been seen in a third of patients in some series<span class="elsevierStyleSup">19</span>&#41;&#46; The levels of kidney disease and the age at presentation are highly variable&#44; both within families and across families&#46;<span class="elsevierStyleSup">13&#44;19&#44;22-24 In our case&#44; all of the affected family members had hyperuricaemia and&#44; with the exception of individual III&#58;5&#44; normal urine sediment&#46; Individual III&#58;5 had mild proteinuria of 1&#46;1&#46;5 mg&#47;dl in some sediment samples&#46; Although the majority of cases described in the literature progress without proteinuria&#44; there are some cases of mild proteinuria&#46;25</span> The high level of disease progression variability within families is notable&#46; The age for ESRD varies from early forms &#40;approximate age 40 years&#41;&#44; as in the index case or in individuals I&#58;2 and III&#58;2&#44; to delayed forms &#40;approximate age 60 years&#41;&#44; as in the case of individuals II&#58;1 or II&#58;4&#46; Therefore&#44; the diagnosis of these nephropathies may be difficult if there is a significant familial load&#46; Familial cases that are linked to MCKD1 usually have a higher level of hyperuricaemia and more frequent and early episodes of gout&#44; ultimately reaching end-stage renal failure earlier in life&#46;<span class="elsevierStyleSup">16&#44;26&#44;27</span></p><p class="elsevierStylePara">On a histological level&#44; chronic interstitial nephritis&#44; tubular atrophy and interstitial fibrosis can be observed and often lymphocytic infiltrate&#46; The primary lesion is thinning and progressive loss of the tubular basement membrane and the formation of cysts in the distal tubule and collector tubes&#46; Immunohistochemical studies may reveal abnormal deposits of uromodulin in the tubular cells&#46;<span class="elsevierStyleSup">11&#44;28</span> In this case&#44; the renal biopsy was only performed in 2 of the 9 cases&#46; In the index case &#40;individual III&#58;4&#41;&#44; it was performed at the time of diagnosis &#40;20 years of age&#41;&#44; 20 years before reaching ESKD&#44; and non-specific changes were observed&#46; An early renal biopsy was also performed in individual III&#58;1 &#40;at 29 years of age&#41;&#46; It revealed small foci of tubular atrophy and microcystic ectasia in isolated tubules with normal electron microscopy&#46;</p><p class="elsevierStylePara">The genetic study is based on sequencing the UMOD gene and detecting mutations &#40;some 50 mutations have been described so far&#41;&#46;<span class="elsevierStyleSup">3&#44;14&#44;19&#44;27</span> Given that the majority of mutations are located on exons 3 and 4 of the gene&#44; these are usually studied first in the index case&#44; though mutations in other exons&#44; such as exon 7&#44; have also been described&#46;<span class="elsevierStyleSup">19</span> No clear phenotype-genotype correlation has been found&#46;<span class="elsevierStyleSup">13&#44;19&#44;29</span> 90&#37; of mutations are of the amino acid switch type &#40;missense&#41; and 62&#37; alter the cysteine residue&#44; leading to changes in protein folding&#46;<span class="elsevierStyleSup">30</span> In the case of an absence of a UMOD gene mutation&#44; analysis of the link for the MCKD1 region can be done if samples are available from other affected and non-affected family members&#46;<span class="elsevierStyleSup">8&#44;17&#44;23</span></p><p class="elsevierStylePara">The UMOD gene is regulated by several transcription factors&#44; among them HNF1b&#44; whose mutation is responsible for another hyperuricaemic disease that should be suspected in cases with a compatible clinical presentation and if the studies cited above are negative&#46;<span class="elsevierStyleSup">7&#44;31&#44;32</span></p><p class="elsevierStylePara">The primary indications for genetic diagnosis are workup for a live donor&#44; the possibility of offering safe reproductive options and a pre-symptomatic diagnosis&#46; The mutation found in this case has not been described previously&#46; This is a missense-type mutation in an amino acid that is highly conserved across species with correct family segregation&#46; The finding of this mutation allowed for the pre-symptomatic diagnosis of individual IV&#58;1 and the disease was ruled out in individual IV&#58;2&#46;</p><p class="elsevierStylePara">There is no specific treatment for this disease nor is there for the other inherited cystic kidney diseases&#46;<span class="elsevierStyleSup">5</span> Treatment with uricosuric medications may be helpful in reducing the progression of kidney disease&#44;<span class="elsevierStyleSup">33</span> though the results are highly variable&#46; Treatment with renin-angiotensin inhibitors is recommended due to the renal protective effect&#44; though there are no clinical trials that demonstrate any specific benefits for this disease&#46; Currently&#44; there are no studies on specific medications for the treatment of uromodulin-associated kidney disease&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">CONCLUSIONS</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">Kidney disease caused by mutation of the UMOD gene is not a very well known entity and&#44; due to its high variability within and across families&#44; it is certainly very underdiagnosed&#46; This nephropathy should be suspected in cases of non-specific kidney disease with an autosomal dominant inheritance pattern&#44; normal urine sediment and a kidney biopsy with predominantly interstitial fibrosis&#46; We should also keep in mind that&#44; as with all hereditary kidney diseases&#44; patients with a classic phenotype tend to undergo genetic study&#46; Therefore&#44; the phenotypic spectrum of the disease may be much broader than has been described so far&#46;</p><p class="elsevierStylePara">It is likely that advances in medical genetics may some day in the not so distant future identify the MCKD1 gene as well as other genes involved in familial interstitial nephropathy&#46; Therefore&#44; it is expected that understanding of the familial interstitial nephropathies will grow and result in the discovery of therapeutic targets that will someday facilitate the treatment of this entity&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49241&#95;en&#95;t111960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49241_en_t111960.jpg" alt="Clinical characteristics of the affected families"></img></a></p><p class="elsevierStylePara">Table 1&#46; Clinical characteristics of the affected families</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49242&#95;en&#95;f111960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49242_en_f111960.jpg" alt="Renal biopsy of the index case"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Renal biopsy of the index case</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49243&#95;en&#95;f211960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49243_en_f211960.jpg" alt="Family pedigree"></img></a></p><p class="elsevierStylePara">Figure 2&#46; Family pedigree</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49244&#95;en&#95;f311960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49244_en_f311960.jpg" alt="Sequence fragment from exon 3 of the UMOD gene"></img></a></p><p class="elsevierStylePara">Figure 3&#46; Sequence fragment from exon 3 of the UMOD gene</p>"
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                  "referenciaCompleta" => "Pennica D, Kohr WJ, Kuang WJ, Glaister D, Aggarwal BB, Chen EY, et al. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987;236(4797):83-8. <a href="http://www.ncbi.nlm.nih.gov/pubmed/3453112" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                    0 => null
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                0 => array:3 [
                  "referenciaCompleta" => "Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, Yabe S, et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 2004;65(5):1589-97. <a href="http://www.ncbi.nlm.nih.gov/pubmed/15086896" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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              ]
            ]
            2 => array:3 [
              "identificador" => "bib3"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 2011;80(4):338-47. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21654721" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib4"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "El-Achkar TM, Wu XR. Uromodulin in kidney injury: an instigator, bystander, or protector? Am J Kidney Dis 2012;59(3):452-61."
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib5"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Coto García E. Enfermedad renal quística medular y nefronoptisis. Nefrologia 2011;2(1):74-9."
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib6"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011;364(16):1533-43. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21506742" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib7"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, et al. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet 2010;19(10):1985-97. <a href="http://www.ncbi.nlm.nih.gov/pubmed/20172860" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
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              ]
            ]
            7 => array:3 [
              "identificador" => "bib8"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009;20(1):11-3. <a href="http://www.ncbi.nlm.nih.gov/pubmed/19056873" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib9"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hateboer N, Gumbs C, Teare MD, Coles GA, Griffiths D, Ravine D, et al. Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. Kidney Int 2001;60(4):1233-9. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11576337" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib10"
              "etiqueta" => "10"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hummel A. [Familial juvenile hyperuricemic nephropathy]. Nephrol Ther 2012;8(2):117-25. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22193138" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib11"
              "etiqueta" => "11"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, et al. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? J Am Soc Nephrol 2001;12(11):2348-57. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11675411" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib12"
              "etiqueta" => "12"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002;39(12):882-92. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12471200" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib13"
              "etiqueta" => "13"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004;44(6):987-99. <a href="http://www.ncbi.nlm.nih.gov/pubmed/15558519" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib14"
              "etiqueta" => "14"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Lens XM, Banet JF, Outeda P, Barrio-Lucia V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005;46(1):52-7. <a href="http://www.ncbi.nlm.nih.gov/pubmed/15983957" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                0 => array:3 [
                  "referenciaCompleta" => "Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 1998;7(5):905-11. <a href="http://www.ncbi.nlm.nih.gov/pubmed/9536096" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                0 => array:3 [
                  "referenciaCompleta" => "Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 1999;64(6):1655-60. <a href="http://www.ncbi.nlm.nih.gov/pubmed/10330352" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                0 => array:3 [
                  "referenciaCompleta" => "Hodanova K, Majewski J, Kublova M, Vyletal P, Kalbacova M, Stiburkova B, et al. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int 2005;68(4):1472-82. <a href="http://www.ncbi.nlm.nih.gov/pubmed/16164624" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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            17 => array:3 [
              "identificador" => "bib18"
              "etiqueta" => "18"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Kirby A, Gnirke A, Jaffe D, Baresova V, Pochet N, Blumenstiel B, et al. Combination of modern and traditional techniques identify MCKD1 casual frameshift variants within the MUC1 VNTR. J Am Soc Nephrol 2012 [abstract]. <a href="http://www.ncbi.nlm.nih.gov/pubmed/20431041" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
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            18 => array:3 [
              "identificador" => "bib19"
              "etiqueta" => "19"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bollee G, Dahan K, Flamant M, Moriniere V, Pawtowski A, Heidet L, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 2011;6(10):2429-38. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21868615" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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              ]
            ]
            19 => array:3 [
              "identificador" => "bib20"
              "etiqueta" => "20"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Moro F, Ogg CS, Simmonds HA, Cameron JS, Chantler C, McBride MB, et al. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol 1991;35(6):263-9. <a href="http://www.ncbi.nlm.nih.gov/pubmed/1873940" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            20 => array:3 [
              "identificador" => "bib21"
              "etiqueta" => "21"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ, Hart TC. Familial juvenile hyperuricaemic nephropathy. QJM 2003;96(11):867-8. <a href="http://www.ncbi.nlm.nih.gov/pubmed/14566042" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            21 => array:3 [
              "identificador" => "bib22"
              "etiqueta" => "22"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009;20(1):11-3. <a href="http://www.ncbi.nlm.nih.gov/pubmed/19056873" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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                ]
              ]
            ]
            22 => array:3 [
              "identificador" => "bib23"
              "etiqueta" => "23"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Smith GD, Robinson C, Stewart AP, Edwards EL, Karet HI, Norden AG, et al. Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. Clin J Am Soc Nephrol 2011;6(12):2766-74. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22034507" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            23 => array:3 [
              "identificador" => "bib24"
              "etiqueta" => "24"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra 2012;2(1):147-58. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22740033" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            24 => array:3 [
              "identificador" => "bib25"
              "etiqueta" => "25"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ, Hart PS, Kmoch S. Hereditary interstitial kidney disease. Semin Nephrol 2010;30(4):366-73. <a href="http://www.ncbi.nlm.nih.gov/pubmed/20807609" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            25 => array:3 [
              "identificador" => "bib26"
              "etiqueta" => "26"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002;62(4):1385-94. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12234310" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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                ]
              ]
            ]
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                0 => array:3 [
                  "referenciaCompleta" => "Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006;119(6):649-58. <a href="http://www.ncbi.nlm.nih.gov/pubmed/16738948" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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              ]
            ]
            27 => array:3 [
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              "etiqueta" => "28"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003;14(11):2883-93. <a href="http://www.ncbi.nlm.nih.gov/pubmed/14569098" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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            ]
            28 => array:3 [
              "identificador" => "bib29"
              "etiqueta" => "29"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra 2012;2(1):147-58. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22740033" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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              ]
            ]
            29 => array:3 [
              "identificador" => "bib30"
              "etiqueta" => "30"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, et al. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 2009;18(16):2963-74. <a href="http://www.ncbi.nlm.nih.gov/pubmed/19465746" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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            ]
            30 => array:3 [
              "identificador" => "bib31"
              "etiqueta" => "31"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Faguer S, Decramer S, Chassaing N, Bellanne-Chantelot C, Calvas P, Beaufils S, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011;80(7):768-76."
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
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              "identificador" => "bib32"
              "etiqueta" => "32"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Wolf MT, Hoskins BE, Beck BB, Hoppe B, Tasic V, Otto EA, et al. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol 2009;24(1):55-60. <a href="http://www.ncbi.nlm.nih.gov/pubmed/18846391" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
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                0 => array:3 [
                  "referenciaCompleta" => "Fairbanks LD, Cameron JS, Venkat-Raman G, Rigden SP, Rees L, Van'T HW, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 2002;95(9):597-607. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12205338" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
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Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene
Nefropatía intersticial crónica familiar con hiperuricemia causada por el gen UMOD
Nadia Ayasreh-Fierroa, Elisabet Ars-Criachb, Vanesa Lopes-Martínc, Yolanda Arce-Terrobad, Patricia Ruiz-del Pradob, José Ballarín-Castáne, Roser Torra-Balcellsa
a Enfermedades Renales Hereditarias. Servicio de Nefrología, Fundación Puigvert, Barcelona,
b Laboratorio de Biología Molecular, Fundación Puigvert, Barcelona,
c Servicio de Nefrología, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá (REDINREN), Alcalá de Henares, Madrid,
d Anatomía Patológica, Fundación Puigvert, Barcelona,
e Servicio de Nefrología, Fundación Puigvert, Barcelona,
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the number of patients identified with mutations in this gene has increased considerably&#46;</p><p class="elsevierStylePara">We describe the case of a family with a mutation of the UMOD gene that presents with great intra-familial phenotype variability in which genetic study has made early diagnosis of young family members possible&#46; In addition&#44; we review the literature on this entity and the cases described in the literature to date&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">CLINICAL CASE</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The index case is a male who began being seen in our centre at the age of 19 years due to a six-month history of general malaise and fatigue with alterations in renal function &#40;creatinine 1&#46;8mg&#47;dl&#41;&#46; He had a five-year history of hyperuricaemia with no episodes of gout that was controlled with allopurinol &#40;100mg&#47;day&#41;&#46; Ultrasound of the kidneys and bladder revealed a decrease in the size of both kidneys &#40;9-10cm&#41; and there was no proteinuria or haematuria in the urine sediment&#46; A renal biopsy &#40;Figure 1&#41; revealed non-specific changes&#58; 4 glomeruli were normal and 3 were sclerotic&#44; the tubules had an atrophic appearance and there was a lymphomononuclear infiltrate&#46; The vessels were not affected and immunofluorescence was negative&#46;</p><p class="elsevierStylePara">The patient had slowly-progressing renal failure and at 39 years of age he underwent a live-donor kidney transplant &#40;his wife&#41; without incident&#46; The patient is currently 42 years&#44; has very stable renal function with baseline creatinine levels of 1&#46;5mg&#47;dl-1&#46;7mg&#47;dl and is treated with allopurinol 100mg&#47;day&#46;</p><p class="elsevierStylePara">The family history indicates that various members of the family have renal involvement with hyperuricaemia with different levels of renal failures and polyuria with polydipsia &#40;Figure 2&#41; &#40;Table 1&#41;&#46; One brother &#40;III-2&#41;&#44; with chronic kidney disease and hyperuricaemia&#44; underwent a transplant at 47 years&#46; Another sister &#40;III-1&#41;&#44; also with chronic kidney disease and hyperuricaemia &#40;at 35 years of age she has a creatinine level of 1&#46;8mg&#47;dl&#41;&#46; The mother &#40;II-4&#41; of the three siblings also has chronic kidney disease&#44; started dialysis at 34 years of age and died at 66 years of age&#46;</p><p class="elsevierStylePara">The diagnosis of familial juvenile hyperuricaemic nephropathy was made by mutational analysis of the UMOD gene using direct sequencing of the 10 coding exons &#40;exon 2-exon 11&#41; from the genomic DNA of the index case&#46; Mutational analysis allowed for the identification of the c&#46;606G&#62;C &#40;pW202C&#41; sequence variant in heterozygosis &#40;Figure 3&#41;&#46; This variant is located in exon 3 of the UMOD gene and has not been described previously in the literature&#44; though another mutation that alters the same amino acid has been described &#91;c&#46;605G&#62;C &#40;p&#46;W202S&#41;<span class="elsevierStyleSup">2</span>&#93;&#46; The c&#47;606G&#62;C variant &#40;p&#46;W202C&#41; was not identified in more than 200 control chromosomes analysed and it alters the tryptophan 202 amino acid that is conserved in orthologous proteins&#46; In addition&#44; the segregation of this familial variant was studied and it was found to be shared by all of the affected members&#46; Different variant effect predictors &#40;Condel&#44; Sift&#44; Polyphen&#41; predicted that this is a pathogenic mutation&#46; Because of the above&#44; we concluded that the c&#46;606G&#62;C &#40;p&#46;W202C&#41; variant was very likely the causal pathogenic mutation for the disease&#46;</p><p class="elsevierStylePara">The diagnosis of this pathogenic mutation allowed for pre-symptomatic study of some of the young family members&#44; as is the case in individuals IV&#58;1 &#40;affected&#41; and IV&#58;2 &#40;not affected&#41;&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">DISCUSSION</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">Uromodulin &#40;UMOD&#41;&#44; or Tamm-Horsfall protein &#40;640 amino acids&#44; molecular weight 85-90kDa&#41;<span class="elsevierStyleSup">1</span> expressed in the ascending loop of Henle is the most abundant protein in urine under normal conditions&#46; Although its function has not been completely defined&#44; it has been associated with the impermeabilisation of the distal tubule&#44; a protective effect against urinary tract infections and renal lithiasis&#44; as well as pro-inflammatory activity&#46;<span class="elsevierStyleSup">3&#44;4</span> Dysfunction in this protein has been associated with the inability to concentrate urine and tubulointerstitial fibrosis&#46;<span class="elsevierStyleSup">3</span> Patients with a mutation of the UMOD gene have a decrease in the levels of this protein in the urine due to abnormal folding that leads to accumulation in tubular epithelial cells&#46;<span class="elsevierStyleSup">5</span> Although the pathologies caused by mutation of the UMOD gene are not generally included in the classification of ciliopathies&#44;<span class="elsevierStyleSup">6</span> some studies have been published in the literature that do demonstrate UMOD expression in the primary cilia&#46;<span class="elsevierStyleSup">7</span></p><p class="elsevierStylePara">Mutations of the UMOD gene &#40;chromosome region 16p2&#41;<span class="elsevierStyleSup">8&#44;9</span> are responsible for two tubulointerstitial nephropathies with an autosomal dominant inheritance pattern&#44; type 2 medullary cystic disease &#40;MCKD2&#41; &#91;OMIM 603860&#93; and familial juvenile hyperuricaemia &#40;OMIM 162000&#93;&#44; which is currently encompassed by the term &#8220;kidney disease caused by UMOD gene mutation&#8221;&#46;<span class="elsevierStyleSup">5&#44;10-14 A gene located at locus 1q21 MCKD1 &#91;OMIM 174000&#93;&#44; but not identified until now&#44;15-18</span> is also responsible for tubulointerstitial nephropathy with an autosomal dominant inheritance pattern&#46; It has a similar phenotype but an earlier presentation&#46;</p><p class="elsevierStylePara">Kidney disease caused by a mutation in the UMOD gene has a very low prevalence&#44; less than 1&#37; of end-stage kidney disease &#40;ESKD&#41; in adults&#44; though it may be underdiagnosed&#46;<span class="elsevierStyleSup">5</span> In our case series of familial nephropathies with clinical signs of hyperuricaemic interstitial nephropathy&#44; a mutation has been detected in the UMOD gene in 12&#46;5&#37; of cases &#40;unpublished data&#41;&#44; similar to those published in the literature&#46;<span class="elsevierStyleSup">19</span></p><p class="elsevierStylePara">Uromodulin deficiency causes a deficit in tubular reabsorption&#44; favouring polyuria and hyperuricaemia&#46;<span class="elsevierStyleSup">13</span> The fraction of excreted uric acid appears decreased early in life &#40;even in young patients with still-normal renal function&#41; and usually is less than 5&#37; in adult men and less than 6&#37; in adult women&#46;<span class="elsevierStyleSup">20</span> Uric acid levels above the 75<span class="elsevierStyleSup">th</span> percentile have been observed in more than 70&#37; of these patients&#46; Approximately 75&#37; of men and 50&#37; of women experience gout&#44;<span class="elsevierStyleSup">19</span> but cases have also been described in which blood uric acid levels remain normal&#44; especially in women&#46;<span class="elsevierStyleSup">21</span> The disproportion between hyperuricaemia and the degree of renal failure is notable&#46;<span class="elsevierStyleSup">19</span> All members of the family that were seen had hyperuricaemia since childhood and did not have a history of gout crisis&#46;</p><p class="elsevierStylePara">The renal failure is slowly progressive&#44; generally reaching the end stage between the fourth and sixth decades of life&#46;<span class="elsevierStyleSup">19</span> The urine sediment is non-productive &#40;proteinuria of less than 1g&#47;day may appear in ESRD stages&#41; and the kidney ultrasound usually reveals kidneys of reduced size and on some occasions may include medullary cysts &#40;this has been seen in a third of patients in some series<span class="elsevierStyleSup">19</span>&#41;&#46; The levels of kidney disease and the age at presentation are highly variable&#44; both within families and across families&#46;<span class="elsevierStyleSup">13&#44;19&#44;22-24 In our case&#44; all of the affected family members had hyperuricaemia and&#44; with the exception of individual III&#58;5&#44; normal urine sediment&#46; Individual III&#58;5 had mild proteinuria of 1&#46;1&#46;5 mg&#47;dl in some sediment samples&#46; Although the majority of cases described in the literature progress without proteinuria&#44; there are some cases of mild proteinuria&#46;25</span> The high level of disease progression variability within families is notable&#46; The age for ESRD varies from early forms &#40;approximate age 40 years&#41;&#44; as in the index case or in individuals I&#58;2 and III&#58;2&#44; to delayed forms &#40;approximate age 60 years&#41;&#44; as in the case of individuals II&#58;1 or II&#58;4&#46; Therefore&#44; the diagnosis of these nephropathies may be difficult if there is a significant familial load&#46; Familial cases that are linked to MCKD1 usually have a higher level of hyperuricaemia and more frequent and early episodes of gout&#44; ultimately reaching end-stage renal failure earlier in life&#46;<span class="elsevierStyleSup">16&#44;26&#44;27</span></p><p class="elsevierStylePara">On a histological level&#44; chronic interstitial nephritis&#44; tubular atrophy and interstitial fibrosis can be observed and often lymphocytic infiltrate&#46; The primary lesion is thinning and progressive loss of the tubular basement membrane and the formation of cysts in the distal tubule and collector tubes&#46; Immunohistochemical studies may reveal abnormal deposits of uromodulin in the tubular cells&#46;<span class="elsevierStyleSup">11&#44;28</span> In this case&#44; the renal biopsy was only performed in 2 of the 9 cases&#46; In the index case &#40;individual III&#58;4&#41;&#44; it was performed at the time of diagnosis &#40;20 years of age&#41;&#44; 20 years before reaching ESKD&#44; and non-specific changes were observed&#46; An early renal biopsy was also performed in individual III&#58;1 &#40;at 29 years of age&#41;&#46; It revealed small foci of tubular atrophy and microcystic ectasia in isolated tubules with normal electron microscopy&#46;</p><p class="elsevierStylePara">The genetic study is based on sequencing the UMOD gene and detecting mutations &#40;some 50 mutations have been described so far&#41;&#46;<span class="elsevierStyleSup">3&#44;14&#44;19&#44;27</span> Given that the majority of mutations are located on exons 3 and 4 of the gene&#44; these are usually studied first in the index case&#44; though mutations in other exons&#44; such as exon 7&#44; have also been described&#46;<span class="elsevierStyleSup">19</span> No clear phenotype-genotype correlation has been found&#46;<span class="elsevierStyleSup">13&#44;19&#44;29</span> 90&#37; of mutations are of the amino acid switch type &#40;missense&#41; and 62&#37; alter the cysteine residue&#44; leading to changes in protein folding&#46;<span class="elsevierStyleSup">30</span> In the case of an absence of a UMOD gene mutation&#44; analysis of the link for the MCKD1 region can be done if samples are available from other affected and non-affected family members&#46;<span class="elsevierStyleSup">8&#44;17&#44;23</span></p><p class="elsevierStylePara">The UMOD gene is regulated by several transcription factors&#44; among them HNF1b&#44; whose mutation is responsible for another hyperuricaemic disease that should be suspected in cases with a compatible clinical presentation and if the studies cited above are negative&#46;<span class="elsevierStyleSup">7&#44;31&#44;32</span></p><p class="elsevierStylePara">The primary indications for genetic diagnosis are workup for a live donor&#44; the possibility of offering safe reproductive options and a pre-symptomatic diagnosis&#46; The mutation found in this case has not been described previously&#46; This is a missense-type mutation in an amino acid that is highly conserved across species with correct family segregation&#46; The finding of this mutation allowed for the pre-symptomatic diagnosis of individual IV&#58;1 and the disease was ruled out in individual IV&#58;2&#46;</p><p class="elsevierStylePara">There is no specific treatment for this disease nor is there for the other inherited cystic kidney diseases&#46;<span class="elsevierStyleSup">5</span> Treatment with uricosuric medications may be helpful in reducing the progression of kidney disease&#44;<span class="elsevierStyleSup">33</span> though the results are highly variable&#46; Treatment with renin-angiotensin inhibitors is recommended due to the renal protective effect&#44; though there are no clinical trials that demonstrate any specific benefits for this disease&#46; Currently&#44; there are no studies on specific medications for the treatment of uromodulin-associated kidney disease&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">CONCLUSIONS</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">Kidney disease caused by mutation of the UMOD gene is not a very well known entity and&#44; due to its high variability within and across families&#44; it is certainly very underdiagnosed&#46; This nephropathy should be suspected in cases of non-specific kidney disease with an autosomal dominant inheritance pattern&#44; normal urine sediment and a kidney biopsy with predominantly interstitial fibrosis&#46; We should also keep in mind that&#44; as with all hereditary kidney diseases&#44; patients with a classic phenotype tend to undergo genetic study&#46; Therefore&#44; the phenotypic spectrum of the disease may be much broader than has been described so far&#46;</p><p class="elsevierStylePara">It is likely that advances in medical genetics may some day in the not so distant future identify the MCKD1 gene as well as other genes involved in familial interstitial nephropathy&#46; Therefore&#44; it is expected that understanding of the familial interstitial nephropathies will grow and result in the discovery of therapeutic targets that will someday facilitate the treatment of this entity&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49241&#95;en&#95;t111960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49241_en_t111960.jpg" alt="Clinical characteristics of the affected families"></img></a></p><p class="elsevierStylePara">Table 1&#46; Clinical characteristics of the affected families</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49242&#95;en&#95;f111960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49242_en_f111960.jpg" alt="Renal biopsy of the index case"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Renal biopsy of the index case</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49243&#95;en&#95;f211960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49243_en_f211960.jpg" alt="Family pedigree"></img></a></p><p class="elsevierStylePara">Figure 2&#46; Family pedigree</p><p class="elsevierStylePara"><a href="grande&#47;11960&#95;16025&#95;49244&#95;en&#95;f311960&#46;jpg" class="elsevierStyleCrossRefs"><img src="11960_16025_49244_en_f311960.jpg" alt="Sequence fragment from exon 3 of the UMOD gene"></img></a></p><p class="elsevierStylePara">Figure 3&#46; Sequence fragment from exon 3 of the UMOD gene</p>"
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            0 => array:3 [
              "identificador" => "bib1"
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                0 => array:3 [
                  "referenciaCompleta" => "Pennica D, Kohr WJ, Kuang WJ, Glaister D, Aggarwal BB, Chen EY, et al. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987;236(4797):83-8. <a href="http://www.ncbi.nlm.nih.gov/pubmed/3453112" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                  "host" => array:1 [
                    0 => null
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            1 => array:3 [
              "identificador" => "bib2"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, Yabe S, et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 2004;65(5):1589-97. <a href="http://www.ncbi.nlm.nih.gov/pubmed/15086896" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib3"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 2011;80(4):338-47. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21654721" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib4"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "El-Achkar TM, Wu XR. Uromodulin in kidney injury: an instigator, bystander, or protector? Am J Kidney Dis 2012;59(3):452-61."
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib5"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Coto García E. Enfermedad renal quística medular y nefronoptisis. Nefrologia 2011;2(1):74-9."
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib6"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011;364(16):1533-43. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21506742" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib7"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, et al. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet 2010;19(10):1985-97. <a href="http://www.ncbi.nlm.nih.gov/pubmed/20172860" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib8"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009;20(1):11-3. <a href="http://www.ncbi.nlm.nih.gov/pubmed/19056873" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib9"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hateboer N, Gumbs C, Teare MD, Coles GA, Griffiths D, Ravine D, et al. Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. Kidney Int 2001;60(4):1233-9. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11576337" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib10"
              "etiqueta" => "10"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hummel A. [Familial juvenile hyperuricemic nephropathy]. Nephrol Ther 2012;8(2):117-25. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22193138" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib11"
              "etiqueta" => "11"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, et al. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? J Am Soc Nephrol 2001;12(11):2348-57. <a href="http://www.ncbi.nlm.nih.gov/pubmed/11675411" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib12"
              "etiqueta" => "12"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002;39(12):882-92. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12471200" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib13"
              "etiqueta" => "13"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004;44(6):987-99. <a href="http://www.ncbi.nlm.nih.gov/pubmed/15558519" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib14"
              "etiqueta" => "14"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Lens XM, Banet JF, Outeda P, Barrio-Lucia V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005;46(1):52-7. <a href="http://www.ncbi.nlm.nih.gov/pubmed/15983957" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib15"
              "etiqueta" => "15"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 1998;7(5):905-11. <a href="http://www.ncbi.nlm.nih.gov/pubmed/9536096" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib16"
              "etiqueta" => "16"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 1999;64(6):1655-60. <a href="http://www.ncbi.nlm.nih.gov/pubmed/10330352" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            16 => array:3 [
              "identificador" => "bib17"
              "etiqueta" => "17"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Hodanova K, Majewski J, Kublova M, Vyletal P, Kalbacova M, Stiburkova B, et al. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int 2005;68(4):1472-82. <a href="http://www.ncbi.nlm.nih.gov/pubmed/16164624" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            17 => array:3 [
              "identificador" => "bib18"
              "etiqueta" => "18"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Kirby A, Gnirke A, Jaffe D, Baresova V, Pochet N, Blumenstiel B, et al. Combination of modern and traditional techniques identify MCKD1 casual frameshift variants within the MUC1 VNTR. J Am Soc Nephrol 2012 [abstract]. <a href="http://www.ncbi.nlm.nih.gov/pubmed/20431041" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            18 => array:3 [
              "identificador" => "bib19"
              "etiqueta" => "19"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bollee G, Dahan K, Flamant M, Moriniere V, Pawtowski A, Heidet L, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 2011;6(10):2429-38. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21868615" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            19 => array:3 [
              "identificador" => "bib20"
              "etiqueta" => "20"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Moro F, Ogg CS, Simmonds HA, Cameron JS, Chantler C, McBride MB, et al. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol 1991;35(6):263-9. <a href="http://www.ncbi.nlm.nih.gov/pubmed/1873940" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            20 => array:3 [
              "identificador" => "bib21"
              "etiqueta" => "21"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ, Hart TC. Familial juvenile hyperuricaemic nephropathy. QJM 2003;96(11):867-8. <a href="http://www.ncbi.nlm.nih.gov/pubmed/14566042" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            21 => array:3 [
              "identificador" => "bib22"
              "etiqueta" => "22"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009;20(1):11-3. <a href="http://www.ncbi.nlm.nih.gov/pubmed/19056873" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            22 => array:3 [
              "identificador" => "bib23"
              "etiqueta" => "23"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Smith GD, Robinson C, Stewart AP, Edwards EL, Karet HI, Norden AG, et al. Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. Clin J Am Soc Nephrol 2011;6(12):2766-74. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22034507" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            23 => array:3 [
              "identificador" => "bib24"
              "etiqueta" => "24"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra 2012;2(1):147-58. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22740033" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            24 => array:3 [
              "identificador" => "bib25"
              "etiqueta" => "25"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Bleyer AJ, Hart PS, Kmoch S. Hereditary interstitial kidney disease. Semin Nephrol 2010;30(4):366-73. <a href="http://www.ncbi.nlm.nih.gov/pubmed/20807609" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            25 => array:3 [
              "identificador" => "bib26"
              "etiqueta" => "26"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002;62(4):1385-94. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12234310" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            26 => array:3 [
              "identificador" => "bib27"
              "etiqueta" => "27"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006;119(6):649-58. <a href="http://www.ncbi.nlm.nih.gov/pubmed/16738948" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            27 => array:3 [
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                0 => array:3 [
                  "referenciaCompleta" => "Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003;14(11):2883-93. <a href="http://www.ncbi.nlm.nih.gov/pubmed/14569098" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                0 => array:3 [
                  "referenciaCompleta" => "Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra 2012;2(1):147-58. <a href="http://www.ncbi.nlm.nih.gov/pubmed/22740033" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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                0 => array:3 [
                  "referenciaCompleta" => "Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, et al. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 2009;18(16):2963-74. <a href="http://www.ncbi.nlm.nih.gov/pubmed/19465746" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
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            ]
            30 => array:3 [
              "identificador" => "bib31"
              "etiqueta" => "31"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Faguer S, Decramer S, Chassaing N, Bellanne-Chantelot C, Calvas P, Beaufils S, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011;80(7):768-76."
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
                  ]
                ]
              ]
            ]
            31 => array:3 [
              "identificador" => "bib32"
              "etiqueta" => "32"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Wolf MT, Hoskins BE, Beck BB, Hoppe B, Tasic V, Otto EA, et al. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol 2009;24(1):55-60. <a href="http://www.ncbi.nlm.nih.gov/pubmed/18846391" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
                  ]
                  "host" => array:1 [
                    0 => null
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                ]
              ]
            ]
            32 => array:3 [
              "identificador" => "bib33"
              "etiqueta" => "33"
              "referencia" => array:1 [
                0 => array:3 [
                  "referenciaCompleta" => "Fairbanks LD, Cameron JS, Venkat-Raman G, Rigden SP, Rees L, Van'T HW, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 2002;95(9):597-607. <a href="http://www.ncbi.nlm.nih.gov/pubmed/12205338" target="_blank">[Pubmed]</a>"
                  "contribucion" => array:1 [
                    0 => null
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