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without cystic lesions&#46; The lab test reveals hyperuricaemia of 7&#46;6<span class="elsevierStyleHsp" style=""></span>mg&#47;dl&#44; creatinine 1&#46;26<span class="elsevierStyleHsp" style=""></span>mg&#47;dl&#44; MDRD 46&#46;8<span class="elsevierStyleHsp" style=""></span>ml&#47;min&#47;1&#46;73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>&#44; normal urine and 24<span class="elsevierStyleHsp" style=""></span>h CrCl 58<span class="elsevierStyleHsp" style=""></span>ml&#47;min&#46; Her father and 3 out of 4 paternal uncles had kidney failure diagnosed at late ages and at an advanced stage of CKD&#44; one in stage 3b and the other 2 in stage 4 and 5 respectively &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The rest of first and second degree relatives were evaluated and the findings were the following&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">&#8211;</span><p id="par0020" class="elsevierStylePara elsevierViewall">The first generation consists of 5 individuals &#40;father and 4 uncles of the case&#41;&#46; All those who have kidney failure also have hyperuricemia&#46; Currently&#44; 2 are kidney transplant recipients and 2 are in advance CKD&#46; In all of them except one&#44; renal ultrasonography is normal without evidence of cystic lesions&#46; A renal biopsy was performed on the only paternal uncle with only one corticomedullary cyst and with advanced CKD MDRD-4 20<span class="elsevierStyleHsp" style=""></span>ml&#47;min&#47;1&#46;73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>&#44; histology showed chronic tubulointerstitial nephropathy &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">&#8211;</span><p id="par0025" class="elsevierStylePara elsevierViewall">The second generation includes the patient case&#44; 2 brothers and 16 cousins&#46; Kidney failure is detected in 4 cases including the patient&#44; 3 in stage 3a and one in stage 2&#44; all of them with hyperuricemia&#44; and 3 cases had hyperuricemia without renal failure&#46; Only one cousin&#44; without renal failure or hyperuricemia&#44; presents corticomedullary cysts&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">&#8211;</span><p id="par0030" class="elsevierStylePara elsevierViewall">The third generation consists of 34 people born between 1981 and 2013&#44; all of them studied with normal blood and urine tests</p></li></ul></p><p id="par0035" class="elsevierStylePara elsevierViewall">In general we have the following findings&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">&#8211;</span><p id="par0040" class="elsevierStylePara elsevierViewall">Renal insufficiency in 4&#47;5 ascendants&#44; 1 out of the 2 brothers and 2 cousins&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">&#8211;</span><p id="par0045" class="elsevierStylePara elsevierViewall">Hyperuricemia with hypouricosuria in all affected with renal failure&#46; In addition&#44; urinary osmolarity &#60;500<span class="elsevierStyleHsp" style=""></span>mOsm&#47;kg and hypomagnesuria with normomagnesemia in some of the affected&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">&#8211;</span><p id="par0050" class="elsevierStylePara elsevierViewall">Corticomedullary cysts were found only in 2 of the family members studied&#44; and only one had obvious clinical-analytic findings&#46; None presented symptoms or ultrasound findings of renal lithiasis&#46;</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">&#8211;</span><p id="par0055" class="elsevierStylePara elsevierViewall">Gout only in the 4 patients affected from the first generation&#46;</p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8211;</span><p id="par0060" class="elsevierStylePara elsevierViewall">In all cases HTN coincides with renal failure&#46;</p></li></ul></p><p id="par0065" class="elsevierStylePara elsevierViewall">After clinical evaluation it was performed sequencing of exons 2&#8211;12 &#40;coding&#41; as well as the flanking intronic bases in one of the patients affected&#46; To this end&#44; fragments were amplified by PCR followed by automatic sequencing using the Sanger method&#46; A new mutation was identified in exon 4&#58; c&#46;517C&#62;G&#44; p&#46;P173A&#44; which was determined in all the family members studied genetically &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#44; all affected were heterozygous carriers&#46; The family member without the mutation did not have any clinical expression or laboratory abnormalities related to the disease&#46; Of the other 6 that do have the mutation&#44; 4 have developed the disease &#40;hyperuricemia and renal failure&#41;&#44; while the other 2 did show evidence of the disease&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">With all these findings&#44; we make the diagnosis of familial chronic interstitial nephropathy with hyperuricemia caused by the UMOD gene&#44; a variant of type 2 medullary cystic disease&#46;</p><p id="par0075" class="elsevierStylePara elsevierViewall">Mutations in the UMOD gene are the cause of different hereditary hyperuricemic and hypouricosuric nephropathies that can cause&#44; in addition to gout and lithiasis&#44; arterial hypertension and chronic tubulointerstitial nephritis leading to advanced CKD&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2</span></a> The FJHN of dominant autonomic inheritance usually manifests itself in adulthood due to hyperuricemia&#44; and there is a great heterogeneity of the intra- and interfamilial genotype&#8211;phenotype of this entity&#44; a situation that also occurs in the family that has been exposed&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3&#44;4</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Dozens of mutations have been described in the UMOD gene&#46;<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5&#44;6</span></a> In our case&#44; a previously undescribed mutation has been discovered that consists in a modification of the amino acid cytosine by guanine &#40;c&#46;517C&#62;G p&#46;pro173Ala&#41; in the studied fragment that corresponds to exon 3 of the UMOD gene&#44; and that is why we bring it to the attention of the scientific community&#46; Most of the mutations have been located in exon 4&#44;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> but never the current mutation that conditions the amino acid change described above&#46; This newly described mutation would not imply pathogenic character had it not been found in several affected members of the family &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; This finding has allowed the preclinical diagnosis of 2 relatives of 39 and 40 years&#44; and in one individual the disease was ruled out&#46; Since all those affected have the mutation&#44; but there are carriers without clinical expression of the disease&#44; we understand that the mutation is related to a variable penetrance&#44; which could depend on the age&#46; Although the progression of renal failure in this entity is slow&#44; its silent nature justifies the monitoring of asymptomatic young relatives&#44; since&#44; although there is no specific therapy&#44; early diagnosis would allow early treatment of indolent hyperuricemia and global recommendations for nephroprotection in an attempt to slow down the onset or progression of the nephropathy&#46;<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">8&#8211;10</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">We conclude that the early detection of FJHN can lead to early treatment that delays the onset or progression of renal failure&#46; The family study and genetic analysis in this disease are important for its definitive diagnosis since the clinic and the histopathology are not specific&#46;</p></span>"
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Letter to the Editor
Familial hyperuricaemic nephropathy: New mutation in uromodulin gen
Nefropatía familiar hiperuricemiante: nueva mutación familiar del gen de la uromodulina
M. Adoración Martín-Gómeza,
Corresponding author
doritamg@gmail.com

Corresponding author.
, Coto Eliecerb, Mercedes Caba Molinac, Carlos González Ollerd, Raimundo García del Moralc
a Unidad de Nefrología, Hospital de Poniente, El Ejido, Almería, Spain
b Unidad de Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
c Departamento de Anatomía Patológica, Hospital San Cecilio, Granada, Spain
d Servicio de Análisis Clínicos, Hospital de Poniente, El Ejido, Almería, Spain
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without cystic lesions&#46; The lab test reveals hyperuricaemia of 7&#46;6<span class="elsevierStyleHsp" style=""></span>mg&#47;dl&#44; creatinine 1&#46;26<span class="elsevierStyleHsp" style=""></span>mg&#47;dl&#44; MDRD 46&#46;8<span class="elsevierStyleHsp" style=""></span>ml&#47;min&#47;1&#46;73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>&#44; normal urine and 24<span class="elsevierStyleHsp" style=""></span>h CrCl 58<span class="elsevierStyleHsp" style=""></span>ml&#47;min&#46; Her father and 3 out of 4 paternal uncles had kidney failure diagnosed at late ages and at an advanced stage of CKD&#44; one in stage 3b and the other 2 in stage 4 and 5 respectively &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The rest of first and second degree relatives were evaluated and the findings were the following&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">&#8211;</span><p id="par0020" class="elsevierStylePara elsevierViewall">The first generation consists of 5 individuals &#40;father and 4 uncles of the case&#41;&#46; All those who have kidney failure also have hyperuricemia&#46; Currently&#44; 2 are kidney transplant recipients and 2 are in advance CKD&#46; In all of them except one&#44; renal ultrasonography is normal without evidence of cystic lesions&#46; A renal biopsy was performed on the only paternal uncle with only one corticomedullary cyst and with advanced CKD MDRD-4 20<span class="elsevierStyleHsp" style=""></span>ml&#47;min&#47;1&#46;73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>&#44; histology showed chronic tubulointerstitial nephropathy &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">&#8211;</span><p id="par0025" class="elsevierStylePara elsevierViewall">The second generation includes the patient case&#44; 2 brothers and 16 cousins&#46; Kidney failure is detected in 4 cases including the patient&#44; 3 in stage 3a and one in stage 2&#44; all of them with hyperuricemia&#44; and 3 cases had hyperuricemia without renal failure&#46; Only one cousin&#44; without renal failure or hyperuricemia&#44; presents corticomedullary cysts&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">&#8211;</span><p id="par0030" class="elsevierStylePara elsevierViewall">The third generation consists of 34 people born between 1981 and 2013&#44; all of them studied with normal blood and urine tests</p></li></ul></p><p id="par0035" class="elsevierStylePara elsevierViewall">In general we have the following findings&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">&#8211;</span><p id="par0040" class="elsevierStylePara elsevierViewall">Renal insufficiency in 4&#47;5 ascendants&#44; 1 out of the 2 brothers and 2 cousins&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">&#8211;</span><p id="par0045" class="elsevierStylePara elsevierViewall">Hyperuricemia with hypouricosuria in all affected with renal failure&#46; In addition&#44; urinary osmolarity &#60;500<span class="elsevierStyleHsp" style=""></span>mOsm&#47;kg and hypomagnesuria with normomagnesemia in some of the affected&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">&#8211;</span><p id="par0050" class="elsevierStylePara elsevierViewall">Corticomedullary cysts were found only in 2 of the family members studied&#44; and only one had obvious clinical-analytic findings&#46; None presented symptoms or ultrasound findings of renal lithiasis&#46;</p></li><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">&#8211;</span><p id="par0055" class="elsevierStylePara elsevierViewall">Gout only in the 4 patients affected from the first generation&#46;</p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">&#8211;</span><p id="par0060" class="elsevierStylePara elsevierViewall">In all cases HTN coincides with renal failure&#46;</p></li></ul></p><p id="par0065" class="elsevierStylePara elsevierViewall">After clinical evaluation it was performed sequencing of exons 2&#8211;12 &#40;coding&#41; as well as the flanking intronic bases in one of the patients affected&#46; To this end&#44; fragments were amplified by PCR followed by automatic sequencing using the Sanger method&#46; A new mutation was identified in exon 4&#58; c&#46;517C&#62;G&#44; p&#46;P173A&#44; which was determined in all the family members studied genetically &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#44; all affected were heterozygous carriers&#46; The family member without the mutation did not have any clinical expression or laboratory abnormalities related to the disease&#46; Of the other 6 that do have the mutation&#44; 4 have developed the disease &#40;hyperuricemia and renal failure&#41;&#44; while the other 2 did show evidence of the disease&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">With all these findings&#44; we make the diagnosis of familial chronic interstitial nephropathy with hyperuricemia caused by the UMOD gene&#44; a variant of type 2 medullary cystic disease&#46;</p><p id="par0075" class="elsevierStylePara elsevierViewall">Mutations in the UMOD gene are the cause of different hereditary hyperuricemic and hypouricosuric nephropathies that can cause&#44; in addition to gout and lithiasis&#44; arterial hypertension and chronic tubulointerstitial nephritis leading to advanced CKD&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1&#44;2</span></a> The FJHN of dominant autonomic inheritance usually manifests itself in adulthood due to hyperuricemia&#44; and there is a great heterogeneity of the intra- and interfamilial genotype&#8211;phenotype of this entity&#44; a situation that also occurs in the family that has been exposed&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3&#44;4</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">Dozens of mutations have been described in the UMOD gene&#46;<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5&#44;6</span></a> In our case&#44; a previously undescribed mutation has been discovered that consists in a modification of the amino acid cytosine by guanine &#40;c&#46;517C&#62;G p&#46;pro173Ala&#41; in the studied fragment that corresponds to exon 3 of the UMOD gene&#44; and that is why we bring it to the attention of the scientific community&#46; Most of the mutations have been located in exon 4&#44;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> but never the current mutation that conditions the amino acid change described above&#46; This newly described mutation would not imply pathogenic character had it not been found in several affected members of the family &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; This finding has allowed the preclinical diagnosis of 2 relatives of 39 and 40 years&#44; and in one individual the disease was ruled out&#46; Since all those affected have the mutation&#44; but there are carriers without clinical expression of the disease&#44; we understand that the mutation is related to a variable penetrance&#44; which could depend on the age&#46; Although the progression of renal failure in this entity is slow&#44; its silent nature justifies the monitoring of asymptomatic young relatives&#44; since&#44; although there is no specific therapy&#44; early diagnosis would allow early treatment of indolent hyperuricemia and global recommendations for nephroprotection in an attempt to slow down the onset or progression of the nephropathy&#46;<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">8&#8211;10</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">We conclude that the early detection of FJHN can lead to early treatment that delays the onset or progression of renal failure&#46; The family study and genetic analysis in this disease are important for its definitive diagnosis since the clinic and the histopathology are not specific&#46;</p></span>"
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Article information
ISSN: 20132514
Original language: English
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2022 February 48 49 97
2022 January 44 45 89
2021 December 31 41 72
2021 November 38 45 83
2021 October 71 45 116
2021 September 52 34 86
2021 August 66 38 104
2021 July 54 44 98
2021 June 36 28 64
2021 May 30 52 82
2021 April 77 68 145
2021 March 46 33 79
2021 February 45 31 76
2021 January 31 19 50
2020 December 33 14 47
2020 November 32 16 48
2020 October 31 26 57
2020 September 25 27 52
2020 August 35 12 47
2020 July 24 9 33
2020 June 35 14 49
2020 May 41 12 53
2020 April 19 14 33
2020 March 16 9 25
2020 February 29 15 44
2020 January 40 19 59
2019 December 37 25 62
2019 November 48 19 67
2019 October 27 11 38
2019 September 23 14 37
2019 August 30 11 41
2019 July 38 30 68
2019 June 36 24 60
2019 May 22 10 32
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Idiomas
Nefrología (English Edition)