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    "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">INTRODUCTION</span></p><p class="elsevierStylePara">There are several forms of hereditary hypophosphatemic rickets associated with a decrease in renal reabsorption of phosphorus&#46;<span class="elsevierStyleSup">1-3&#46;</span>The majority of them are characterized by a 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamin D<span class="elsevierStyleInf">3 </span>inappropriately normal&#44; or low and hypocalciuria&#44; indicating that the underlying abnormality that produces them alters the renal transport of phosphorus and the production of calcitriol&#46;<span class="elsevierStyleSup">1-3</span></p><p class="elsevierStylePara">The most prevalent familiar form is hypophosphatemic rickets linked to the X chromosome &#40;XLRH&#41;&#44; caused by mutations in the<span class="elsevierStyleItalic"> PHEX </span>gene<span class="elsevierStyleItalic">&#46;</span><span class="elsevierStyleSup">1-3</span></p><p class="elsevierStylePara">Approximately 30 years ago a very rare variant was described&#44; known with the name of hereditary hypophosphatemic rickets with hypercalciuria &#40;HHRH&#41;&#46; This one&#44; unlike other forms of hypophosphatemic rickets&#44; presents with elevated levels of 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamin D<span class="elsevierStyleInf">3</span> &#44; hypercalciuria and depressed parathyroid hormone &#40;PTH&#41;&#46;<span class="elsevierStyleSup">4-10</span></p><p class="elsevierStylePara">In this study we describe an adult male patient whose phenotypic characteristics and genetics correspond with a HHRH&#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">We present the case of a 50 year-old man evaluated in the Urology Department of our hospital&#44; presenting a recurrent renal calculus disease since the age of 36&#46; In total&#44; he had formed 12 calculi with spontaneous expulsion of the last calculus a few weeks before visiting our unit&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Personal History&#58;</span> He refers that in the first years of his life he had a deformity of the lower extremities &#40;BLE&#41;&#44; with the right leg arched outward and the left one inward&#44; which made him walk in an unusual way&#46; As he did not improve&#44; at the age of 13 he underwent surgery for BLE&#44; subsequently improving his gait in a relevant way&#46; In 1996 presented a multiple fracture in the left lower extremity in relation to a car accident&#44; in which he underwent several surgical operations&#46; He is currently awaiting a prosthetic knee replacement&#46; He has received treatment with calcium orally for many years&#46; In recent months high blood pressure has been detected&#44; which has been treated first with enalapril and subsequently with amlodipine&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Family history&#58;</span> The patient has two brothers and three children &#40;two boys and one girl&#41;&#44; all of whom are healthy&#44; without bone alterations&#46; Their parents died&#44; but he recalls that his father had a recurrent renal lithiasis&#44; having been operated on several occasions&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Clinical examination&#58;</span> Weight&#58; 67&#46;2Kg&#46; Size&#58; 148cm&#46; Low stature&#46; <span class="elsevierStyleItalic">Genu varum</span> bilateral&#46; No additional pathological findings&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Supplementary examinations&#58; </span>Supplementary examinations&#58; The baseline blood biochemical study carried out on the patient is shown in Table 1&#46; In addition&#44; he presented a uraemia of 55mg&#47;dl &#40;reference value &#91;RV&#93;&#58; 10-50&#41;&#44; a calcium-ion of 1&#46;28mmol&#47;l &#40;RV&#58; 1&#46;12-1&#46;35&#41;&#44; and a magnesaemia of 1&#46;8mg&#47;dl &#40;RV&#58; 1&#46;59-2&#46;5&#41;&#46; In the metabolic and renal function study carried out in 24-hour urine was as follows&#58; glomerular filtration rate &#40;GFR&#41; discretely dropped from 74&#46;43 ml&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span>&#59; a phosphaturia of 1195&#46;28mg&#47;24 hours &#40;RV&#58; 795&#46;6&#177;191&#41;&#59; a tubular reabsorption of phosphate &#40;TRP&#41; and a tubular reabsorption of phosphate per 100 of GFR &#40;TP&#47;GFR&#41; much diminished&#44; 51&#37; &#40;RV&#58; 87&#46;44&#177;5&#46;50&#41; and 0&#46;91mg&#47;dl &#40;RV&#58; 3&#46;30&#177;0&#46;3&#41;&#44; respectively&#59; and a hypercalciuria of 363mg&#47;dl &#40;RV&#58; 100-300&#41;&#44; and a mild glomerular proteinuria &#60;0&#46;3 g&#47;24 hours&#46; The &#946;<span class="elsevierStyleInf">2</span>-microglobulin and the &#945;<span class="elsevierStyleInf">1</span>-microglobulin in urine were normal&#44; so that a tubular proteinuria was ruled out&#46; The serum electrolytes&#44; uric acid&#44; and oxalate were normal both in blood and urine&#46; Glycosuria was never detected&#46; The study of amino acids in the blood and urine&#44; clearance and the tubular reabsorption of each one of them were normal&#46; The bicarbonataemia conducted in capillary blood was normal&#46; The urinary pH was repeatedly alkaline&#44; and citraturia was at the lower limit of the normal range&#44; being of 399mg&#47;24 hours &#40;RV&#58; &#62;320mg&#47;24 hours&#41;&#46;</p><p class="elsevierStylePara">In order to rule out an incomplete renal tubular acidosis&#44; an acidification test is carried out after an oral overload of ammonium chloride according to the previously described&#46;<span class="elsevierStyleSup">11</span> In the maximum moment of blood acidification&#44; the urinary pH was maintained above 5&#46;5 &#40;RV&#58; 4&#46;89&#177;0&#46;24 &#41; and the maximum levels of the titratable acidity&#44; ammonium and net excretion of hydrogen ions did not reach the normal values&#44; being 18&#46;28Eq&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span> &#40;RV&#58; 43&#46;12&#177;10&#46;21 &#41;&#44; 19&#181;Eq&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span> &#40;RV&#58; 63&#44;80&#177;19&#44;54&#41; and 36&#181;Eq&#47;min&#47;1&#44;73m<span class="elsevierStyleSup">2</span> &#40;RV&#58; 107&#46;17&#177;28&#46;18 &#41;&#44; respectively &#40;analytical standard of incomplete distal renal tubular acidosis&#41;&#46; An oral calcium overload was carried out after seven days of a diet free of calcium and salt&#44; according to the protocol described above&#46;<span class="elsevierStyleSup">12</span> Before the calcium overload&#44; while fasting and after the hypocalcaemia diet&#44; the quotient calcium&#47;creatinine in isolated urine was 0&#46;17mg&#47;mg&#46; After the overload&#44; this ratio rose above the normal range&#44; being of 0&#46;23mg&#47;mg&#46; The intact PTH &#40;iPTH&#41; remained diminished and the 1&#44;25 OH vitamin D high &#40;analytical standard of idiopathic hypercalciuria type III of Pak with gastro-intestinal absorption of calcium and increased secondary to a loss of renal phosphorus&#41;&#46; In the radiologic study carried out repeatedly &#40;plain abdominal radiography&#44; ultrasound and intravenous renal urography&#41;&#44; showed a very important nephrocalcinosis medullary bilateral&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Genetic Study&#58; </span>The molecular study carried out on the patient &#40;polymerase chain reaction and bi-directional sequencing&#41;&#44; we found a change in homozygous in intron 5 of the<span class="elsevierStyleItalic"> SLC34A3 </span>gene &#40;NM&#95;080877&#46;2&#58;c&#46; &#91;448 &#43;5G&#62;A&#93; &#43; &#91;448 &#43;5G&#62;A&#93;&#41;&#46; The<span class="elsevierStyleItalic"> in silico analysis</span> did not resolve the benignity or pathogenicity of the variant&#44; so we proceeded to study the segregation of this in his three sons&#44; showing that all three had the same change in the <span class="elsevierStyleItalic">SLC34A3 </span>gene<span class="elsevierStyleItalic"> </span>in heterozygosis &#40;carriers&#41;&#46; We were not able to carry out the study of the messenger RNA &#40;mRNA&#41;&#46; The metabolic and renal function study of the three children was normal&#44; except that the two boys only had mild hypercalciuria&#46;<span class="elsevierStyleSup">13&#46;14</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">DISCUSSION</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">HHRH was first described in 1985 by Tieder et al&#46; in a Bedouin family&#44; expounding the cases of six affected members&#46;<span class="elsevierStyleSup">4</span> This is a very rare process that is transmitted in an autosomal recessive manner and is manifest from childhood&#46; Patients with this disease have rickets&#44; bone deformities&#44; short stature&#44; muscle weakness and bone pain&#46; The condition is characterized by secondary hypophosphatemic rickets&#47;osteomalacia to excessive loss of renal phosphate and at an elevation of 1&#44;25 OH<span class="elsevierStyleInf">2 </span>circulating vitamin D<span class="elsevierStyleInf">3</span>&#44; as a response to the hypophosphatemia&#46; Consequently&#44; hypercalciuria appears&#44; due to an increase in gastrointestinal absorption of calcium and phosphorus&#44; with depression of parathyroid function&#46; Hypercalciuria and elevated levels of 1&#46;25<span class="elsevierStyleInf">2 OH</span> vitamin D<span class="elsevierStyleInf"> 3</span> are precisely those that differentiate the HHRH from other forms of rickets&#47;hypophosphatemic osteomalacia&#46;<span class="elsevierStyleSup">2&#44;15&#44;16</span> As a result of the hypercalciuria&#44; it can originate a nephrocalcinosis or lithiasis&#44; as well as a kidney failure&#46;</p><p class="elsevierStylePara">It has recently been published that HHRH &#40;OMIM&#35;241530&#41; is due to mutations in the<span class="elsevierStyleItalic"> SLC34A3 </span>gene<span class="elsevierStyleItalic">&#44;</span> located in the chromosomal locus 9q34 that encodes the sodium-phosphate cotransporter IIc &#40;NaPi-IIc&#41;&#44; which is expressed in the apical membrane of renal proximal tubular cells and that normally regulates the reabsorption of phosphate filtering&#44; under the control of the PTH and fibroblast growth factor &#40;FGF23&#41;&#46; Function-loss mutations in <span class="elsevierStyleItalic">SLC34A3 </span>cause increased phosphate excretion at proximal level&#44; characteristic of the disease<span class="elsevierStyleSup">2&#44;10&#44;13 </span>which can give rise to different phenotypic changes &#40;Figure 1&#41;&#46;<span class="elsevierStyleSup">17&#44;18</span></p><p class="elsevierStylePara">In studies of patients with HHRH it has been shown that by simply using a phosphate salt supplement orally all the clinical&#44; biochemical analytical and radiographic features of the condition may be corrected except for the excessive loss of renal phosphate&#46; This suggests that hypophosphatemia&#44; in the absence of alterations in the of vitamin D metabolism&#44; play an important role in bone metabolism&#46;<span class="elsevierStyleSup">6&#46;8</span></p><p class="elsevierStylePara">On the other hand&#44; since the nephrocalcinosis is probably linked to the hypercalciuria&#44; the administration of calcitriol&#44; calcium or the failure of the treatment with the phosphorus supplementation can promote renal deposits of calcium and overshadow the prognosis in these patients&#46;<span class="elsevierStyleSup">6&#46;8</span></p><p class="elsevierStylePara">Currently it is considered that there is a bone-kidney axis in which multiple genes are involved and which regulates the metabolism of phosphorus and the mineralization of bone matrix&#46; The main exponent of this axis is FGF23&#44; the first phosphatonin that was discovered and that is produced by the osteocytes&#46; The NaPi-IIc&#44; together with other proteins such as PHEX&#44; MEPE and DMP1&#44; participate in the regulation of the axis &#40;Table 2&#41;&#46;<span class="elsevierStyleSup">2&#46;3&#44;19&#44;20</span></p><p class="elsevierStylePara">The patient described in this study met all the clinical and laboratory characteristics compatible with HHRH&#46; Rickets&#47;hypophosphatemic osteomalacia and to the diminished tubular reabsorption of phosphate associated with an elevation of the 1&#44;25 OH<span class="elsevierStyleInf">2</span> circulating vitamin D<span class="elsevierStyleInf">3</span> and a hypercalciuria&#46; This ruled out XLRH&#44; which is the most common form of hereditary hypophosphatemic rickets that is due to inactivating mutations in the gene<span class="elsevierStyleItalic"> PHEX</span> &#40;OMIM&#35; 307800&#41; and where the PTH is normal and the 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamin D<span class="elsevierStyleInf">3</span> abnormally low for the phosphatemia levels&#46;<span class="elsevierStyleSup">3&#46;15&#44;20</span> For the same reason&#44; three more forms of hypophosphatemic rickets could also be ruled out&#58; tumour-induced hypophosphatemia&#44; which is secondary to various phosphatonins secreted by benign tumours of mesenchymal origin &#40;SFRP-4&#44; MEPE&#44; FGF-7&#41;<span class="elsevierStyleSup">20</span>&#59; the autosomal dominant hypophosphatemic rickets&#44; which is a form of hypophosphatemic rickets very rare with variable penetrance&#44; biochemically similar to XLRH and due to mutations in the gene <span class="elsevierStyleItalic">FGF23</span> &#40;OMIM&#35; 193100&#41;&#44;<span class="elsevierStyleSup">21</span> and autosomal recessive hypophosphatemic rickets &#40;OMIM&#35; 241520&#41;&#44; caused by mutations in the gene<span class="elsevierStyleItalic"> DMP1&#46;</span><span class="elsevierStyleSup">20</span> Finally&#44; the absence of a tubular proteinuria also ruled out Dent&#39;s disease&#44; an X chromosome-linked entity caused by mutations in the<span class="elsevierStyleItalic"> CNCL5 </span><span class="elsevierStyleItalic">gene</span> encoding the electrogenic Cl<span class="elsevierStyleSup">-</span>&#47;H<span class="elsevierStyleSup">&#43; </span>exchanger of the chloride channel family&#44; which is expressed in endosomes of the proximal tubular epithelium and also show hypercalciuria &#40;Table 2&#41;&#46;<span class="elsevierStyleSup">22</span></p><p class="elsevierStylePara">Our patient had an incomplete renal tubular acidosis&#44; clearly reflected in the acidification test&#46; Patients with hypercalciuria and nephrocalcinosis are known to present abnormal renal acidification capacity and acidosis as a consequence of &#160;nephrocalcinosis&#46; The renal failure present in our patient also was secondary to the nephrocalcinosis&#44; rather than directly related to the <span class="elsevierStyleItalic">SLC34A3 </span>mutation&#46;<span class="elsevierStyleSup">23-25</span></p><p class="elsevierStylePara">The molecular study showed a homozygotic change in intron 5 of the <span class="elsevierStyleItalic">SLC34A3 </span>gene &#40;NM&#95;080877&#46;2&#58;c&#91; 448 &#43;5G&#62;A&#93; &#43; &#91; 448&#43; 5G&#62;A&#93; &#41;&#46; The fact that the three healthy children of the patient presented the same sequence variation in the <span class="elsevierStyleItalic">SLC34A3 </span>gene<span class="elsevierStyleItalic"> </span>in heterozygosis and that the two boys presented hypercalciuria would suggest that the genetic alteration detected being was the cause of hypophosphatemic rickets&#46; A mutation located also in intron 5 &#40;NM&#95;080877&#46;2&#58;c&#46;448 &#43;1G&#62;A&#41;&#44; which was very close to the variant found in our patient&#44; has been recently described&#46;<span class="elsevierStyleSup">17</span></p><p class="elsevierStylePara">In conclusion&#44; we present a patient with hypophosphatemic rickets that&#44; according to the clinical symptoms&#44; the biochemical signs and genetic study&#44; is compatible with HHRH&#46; Early diagnosis and treatment are essential for preventing bone sequelae of rickets and nephrocalcinosis&#46; The correct distinction with the other forms of hypophosphatemic rickets has implications in the treatment&#44; since the isolated administration of phosphorus supplements corrects all clinical and biochemical alterations&#44; except the loss of phosphate in the urine&#46; The contribution of exogenous calcitriol as recommended in other cases of hypophosphatemic rickets&#44; can favour renal deposits of calcium and the emergence of nephrocalcinosis&#44; as well as worsen their prognosis&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleItalic">Molecular study conducted at the Institut f&#252;r Humangenetik des KlinikuMs rechts der Isar der Technischen Universit&#228;t M&#252;nchen&#46; Direcktor&#58; Univ&#46; Prof&#46; Med&#46; Th&#46; Meitinger POLIKLINIK&#46;</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors state that they have no potential conflicts of interest related to the contents of this article&#46;<span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><a href="grande&#47;11321&#95;16025&#95;33145&#95;en&#95;11321t1&#46;jpg" class="elsevierStyleCrossRefs"><img src="11321_16025_33145_en_11321t1.jpg" alt="Biochemical parameters of the patient with HHRH"></img></a></p><p class="elsevierStylePara">Table 1&#46; Biochemical parameters of the patient with HHRH</p><p class="elsevierStylePara"><a href="grande&#47;11321&#95;16025&#95;33146&#95;en&#95;11321t2&#46;jpg" class="elsevierStyleCrossRefs"><img src="11321_16025_33146_en_11321t2.jpg" alt="Types of hypophosphatemic rickets&#44; genes and biochemical characteristics of each one of them"></img></a></p><p class="elsevierStylePara">Table 2&#46; Types of hypophosphatemic rickets&#44; genes and biochemical characteristics of each one of them</p><p class="elsevierStylePara"><a href="grande&#47;11321&#95;16025&#95;33147&#95;en&#95;11321f1&#46;jpg" class="elsevierStyleCrossRefs"><img src="11321_16025_33147_en_11321f1.jpg" alt="Schematic representation of the reabsorption of phosphorus in the apical membrane of proximal tubule and the biochemical consequences of the mutations with loss of function in the gene SLC34A3&#46;"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Schematic representation of the reabsorption of phosphorus in the apical membrane of proximal tubule and the biochemical consequences of the mutations with loss of function in the gene SLC34A3&#46;</p>"
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        "resumen" => "<p class="elsevierStylePara">Presentamos el caso cl&#237;nico de un var&#243;n de 50 a&#241;os de edad que consulta por presentar una enfermedad renal liti&#225;sica recidivante y una nefrocalcinosis&#46; En la exploraci&#243;n cl&#237;nica destac&#243; una talla baja y un <span class="elsevierStyleItalic">genu varo</span> bilateral importante&#46; Entre los datos bioqu&#237;micos se apreciaba una p&#233;rdida renal de fosfatos intensa con hipofosfatemia&#44; una 25 OH vitamina D<span class="elsevierStyleInf">3</span> normal&#44; una 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamina D<span class="elsevierStyleInf">3</span> elevada y una hipercalciuria&#46; La hormona paratiroidea &#40;PTHi&#41; se encontraba disminuida y en la ecograf&#237;a renal se confirm&#243; la existencia de una nefrocalcinosis bilateral grave&#44; localizada en la m&#233;dula renal&#46; Adem&#225;s&#44; se constat&#243; una insuficiencia renal cr&#243;nica incipiente y una acidosis tubular renal incompleta&#44; ambas secundarias a la nefrocalcinosis y no directamente relacionadas con la enfermedad basal&#46; En el estudio molecular se encontr&#243; un cambio en homocigosis en el intr&#243;n 5 del gen <span class="elsevierStyleItalic">SLC34A3</span> &#40;NM&#95;080877&#46;2&#58;c&#91;448&#43;5G&#62;A&#93;&#43;&#91;448&#43; 5G&#62;A&#93;&#41;&#46; Sus tres hijos eran portadores de esta misma variante en heterocigosis y&#44; aunque cl&#237;nicamente estaban asintom&#225;ticos&#44; dos de ellos ten&#237;an una hipercalciuria&#46; Todos estos datos parec&#237;an indicar que el paciente presentaba un raquitismo hipofosfat&#233;mico hereditario con hipercalciuria &#40;HHRH&#41;&#44; secundario a una alteraci&#243;n en el cotransportador sodio-fosfato IIc &#40;NaPi-IIc&#41;&#44; localizado en el t&#250;bulo proximal&#46; El HHRH se transmite de forma autos&#243;mica recesiva y es una forma muy rara de raquitismo hipofosfat&#233;mico&#46; El diagn&#243;stico y el tratamiento son fundamentales para evitar las secuelas &#243;seas del raquitismo y la nefrocalcinosis&#46; La distinci&#243;n correcta con las otras formas de raquitismo hipofosfat&#233;mico tiene implicaciones en el tratamiento&#44; ya que normalmente la administraci&#243;n aislada de suplementos de f&#243;sforo corrige todas las alteraciones cl&#237;nicas y bioqu&#237;micas&#44; excepto la p&#233;rdida de fosfato por la orina&#46; El aporte ex&#243;geno de calcitriol&#44; como se aconseja en otros raquitismos hipofosfat&#233;micos&#44; puede favorecer los dep&#243;sitos renales de calcio y la aparici&#243;n de nefrocalcinosis&#44; as&#237; como empeorar su pron&#243;stico&#46;</p>"
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        "resumen" => "<p class="elsevierStylePara">We report a case of a male aged 50 years who consulted for renal disease recurrent lithiasis and nephrocalcinosis&#46; The clinical examination showed external signs of rickets&#47;osteomalacia and biochemical data as well as a severe loss of renal phosphate with hypophosphatemia&#44; normal 25 OH vitamin D&#44; high 1&#44;25 OH vitamin D and hypercalciuria&#46; Parathyroid hormone was low and renal ultrasound confirmed the existence of severe bilateral medullary nephrocalcinosis&#46; They also found incipient chronic renal failure and incomplete renal tubular acidosis&#44; both secondary to nephrocalcinosis and unrelated to the underlying disease&#46; The molecular study found a change in homozygosity in intron 5 of gene <span class="elsevierStyleItalic">SLC34A3</span> &#40;NM&#95;080877&#46;2&#58;c&#91; 448 &#43;5G&#62;A&#93; &#43; &#91; 448 &#43;5G&#62;A&#93; &#41;&#46; His three children were carriers of the same variant in heterozygosis and although they were clinically asymptomatic two of them had hypercalciuria&#46; All these data suggest that the patient had hereditary hypophosphataemic rickets with hypercalciuria &#40;HHRH&#41; secondary to an alteration in the sodium dependent phosphate cotransporter located in proximal tubule &#40;NaPi-IIc&#41;&#46; The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets&#46; The diagnosis and treatment are essential to prevent bone sequelae of rickets and nephrocalcinosis&#46; A correct differential diagnosis with other forms of hypophosphatemic rickets has implications on the treatment&#44; as the management based only on phosphorus supplementation usually corrects all clinical and biochemical abnormalities&#44; except for the loss of phosphorus in the urine&#46; The exogenous supply of calcitriol&#44; as advised in other hypophosphatemic rickets&#44; may induce renal calcium deposits and nephrocalcinosis and worsens the prognosis&#46;</p>"
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Hereditary hypophosphatemic rickets with hypercalciuria: Case report
Raquitismo hipofosfatémico hereditario con hipercalciuria: a propósito de un caso
Ramón Areses Trapotea, Ramón Areses-Trapoteb, Juan Antonio López Garcíac, Juan A. López-Garcíad, Mercedes Ubetagoyena Arrietae, Mercedes Ubetagoyena-Arrietab, Antxon Eizaguirref, Raquel Sáez Villaverdeg, Raquel Sáez-Villaverdeh
a Sección de Nefrología Pediátrica. Servicio de Pediatría, Hospital Donostia, San Sebastián-Donostia, Guipúzcoa, Spain,
b Sección de Nefrología Pediátrica. Servicio de Pediatría, Hospital Universitario Donostia, San Sebastián-Donostia, Guipúzcoa,
c Servicio de Urología, Hospital Donostia, San Sebastián-Donostia, Guipúzcoa, Spain,
d Servicio de Urología, Hospital Universitario Donostia, San Sebastián-Donostia, Guipúzcoa,
e Ección Nefrología Pediátrica. Servicio de Pediatría, Hospital Donostia, San Sebastián-Donostia, Guipúzcoa, Spain,
f Servicio de Nefrología, Hospital Universitario Donostia, San Sebastián-Donostia, Guipúzcoa,
g Unidad de Genética, Hospital Donostia, San Sebastián-Donostia, Guipúzcoa, Spain,
h Unidad de Genética, Hospital Universitario Donostia, San Sebastián-Donostia, Guipúzcoa,
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    "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">INTRODUCTION</span></p><p class="elsevierStylePara">There are several forms of hereditary hypophosphatemic rickets associated with a decrease in renal reabsorption of phosphorus&#46;<span class="elsevierStyleSup">1-3&#46;</span>The majority of them are characterized by a 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamin D<span class="elsevierStyleInf">3 </span>inappropriately normal&#44; or low and hypocalciuria&#44; indicating that the underlying abnormality that produces them alters the renal transport of phosphorus and the production of calcitriol&#46;<span class="elsevierStyleSup">1-3</span></p><p class="elsevierStylePara">The most prevalent familiar form is hypophosphatemic rickets linked to the X chromosome &#40;XLRH&#41;&#44; caused by mutations in the<span class="elsevierStyleItalic"> PHEX </span>gene<span class="elsevierStyleItalic">&#46;</span><span class="elsevierStyleSup">1-3</span></p><p class="elsevierStylePara">Approximately 30 years ago a very rare variant was described&#44; known with the name of hereditary hypophosphatemic rickets with hypercalciuria &#40;HHRH&#41;&#46; This one&#44; unlike other forms of hypophosphatemic rickets&#44; presents with elevated levels of 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamin D<span class="elsevierStyleInf">3</span> &#44; hypercalciuria and depressed parathyroid hormone &#40;PTH&#41;&#46;<span class="elsevierStyleSup">4-10</span></p><p class="elsevierStylePara">In this study we describe an adult male patient whose phenotypic characteristics and genetics correspond with a HHRH&#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">We present the case of a 50 year-old man evaluated in the Urology Department of our hospital&#44; presenting a recurrent renal calculus disease since the age of 36&#46; In total&#44; he had formed 12 calculi with spontaneous expulsion of the last calculus a few weeks before visiting our unit&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Personal History&#58;</span> He refers that in the first years of his life he had a deformity of the lower extremities &#40;BLE&#41;&#44; with the right leg arched outward and the left one inward&#44; which made him walk in an unusual way&#46; As he did not improve&#44; at the age of 13 he underwent surgery for BLE&#44; subsequently improving his gait in a relevant way&#46; In 1996 presented a multiple fracture in the left lower extremity in relation to a car accident&#44; in which he underwent several surgical operations&#46; He is currently awaiting a prosthetic knee replacement&#46; He has received treatment with calcium orally for many years&#46; In recent months high blood pressure has been detected&#44; which has been treated first with enalapril and subsequently with amlodipine&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Family history&#58;</span> The patient has two brothers and three children &#40;two boys and one girl&#41;&#44; all of whom are healthy&#44; without bone alterations&#46; Their parents died&#44; but he recalls that his father had a recurrent renal lithiasis&#44; having been operated on several occasions&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Clinical examination&#58;</span> Weight&#58; 67&#46;2Kg&#46; Size&#58; 148cm&#46; Low stature&#46; <span class="elsevierStyleItalic">Genu varum</span> bilateral&#46; No additional pathological findings&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Supplementary examinations&#58; </span>Supplementary examinations&#58; The baseline blood biochemical study carried out on the patient is shown in Table 1&#46; In addition&#44; he presented a uraemia of 55mg&#47;dl &#40;reference value &#91;RV&#93;&#58; 10-50&#41;&#44; a calcium-ion of 1&#46;28mmol&#47;l &#40;RV&#58; 1&#46;12-1&#46;35&#41;&#44; and a magnesaemia of 1&#46;8mg&#47;dl &#40;RV&#58; 1&#46;59-2&#46;5&#41;&#46; In the metabolic and renal function study carried out in 24-hour urine was as follows&#58; glomerular filtration rate &#40;GFR&#41; discretely dropped from 74&#46;43 ml&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span>&#59; a phosphaturia of 1195&#46;28mg&#47;24 hours &#40;RV&#58; 795&#46;6&#177;191&#41;&#59; a tubular reabsorption of phosphate &#40;TRP&#41; and a tubular reabsorption of phosphate per 100 of GFR &#40;TP&#47;GFR&#41; much diminished&#44; 51&#37; &#40;RV&#58; 87&#46;44&#177;5&#46;50&#41; and 0&#46;91mg&#47;dl &#40;RV&#58; 3&#46;30&#177;0&#46;3&#41;&#44; respectively&#59; and a hypercalciuria of 363mg&#47;dl &#40;RV&#58; 100-300&#41;&#44; and a mild glomerular proteinuria &#60;0&#46;3 g&#47;24 hours&#46; The &#946;<span class="elsevierStyleInf">2</span>-microglobulin and the &#945;<span class="elsevierStyleInf">1</span>-microglobulin in urine were normal&#44; so that a tubular proteinuria was ruled out&#46; The serum electrolytes&#44; uric acid&#44; and oxalate were normal both in blood and urine&#46; Glycosuria was never detected&#46; The study of amino acids in the blood and urine&#44; clearance and the tubular reabsorption of each one of them were normal&#46; The bicarbonataemia conducted in capillary blood was normal&#46; The urinary pH was repeatedly alkaline&#44; and citraturia was at the lower limit of the normal range&#44; being of 399mg&#47;24 hours &#40;RV&#58; &#62;320mg&#47;24 hours&#41;&#46;</p><p class="elsevierStylePara">In order to rule out an incomplete renal tubular acidosis&#44; an acidification test is carried out after an oral overload of ammonium chloride according to the previously described&#46;<span class="elsevierStyleSup">11</span> In the maximum moment of blood acidification&#44; the urinary pH was maintained above 5&#46;5 &#40;RV&#58; 4&#46;89&#177;0&#46;24 &#41; and the maximum levels of the titratable acidity&#44; ammonium and net excretion of hydrogen ions did not reach the normal values&#44; being 18&#46;28Eq&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span> &#40;RV&#58; 43&#46;12&#177;10&#46;21 &#41;&#44; 19&#181;Eq&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span> &#40;RV&#58; 63&#44;80&#177;19&#44;54&#41; and 36&#181;Eq&#47;min&#47;1&#44;73m<span class="elsevierStyleSup">2</span> &#40;RV&#58; 107&#46;17&#177;28&#46;18 &#41;&#44; respectively &#40;analytical standard of incomplete distal renal tubular acidosis&#41;&#46; An oral calcium overload was carried out after seven days of a diet free of calcium and salt&#44; according to the protocol described above&#46;<span class="elsevierStyleSup">12</span> Before the calcium overload&#44; while fasting and after the hypocalcaemia diet&#44; the quotient calcium&#47;creatinine in isolated urine was 0&#46;17mg&#47;mg&#46; After the overload&#44; this ratio rose above the normal range&#44; being of 0&#46;23mg&#47;mg&#46; The intact PTH &#40;iPTH&#41; remained diminished and the 1&#44;25 OH vitamin D high &#40;analytical standard of idiopathic hypercalciuria type III of Pak with gastro-intestinal absorption of calcium and increased secondary to a loss of renal phosphorus&#41;&#46; In the radiologic study carried out repeatedly &#40;plain abdominal radiography&#44; ultrasound and intravenous renal urography&#41;&#44; showed a very important nephrocalcinosis medullary bilateral&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Genetic Study&#58; </span>The molecular study carried out on the patient &#40;polymerase chain reaction and bi-directional sequencing&#41;&#44; we found a change in homozygous in intron 5 of the<span class="elsevierStyleItalic"> SLC34A3 </span>gene &#40;NM&#95;080877&#46;2&#58;c&#46; &#91;448 &#43;5G&#62;A&#93; &#43; &#91;448 &#43;5G&#62;A&#93;&#41;&#46; The<span class="elsevierStyleItalic"> in silico analysis</span> did not resolve the benignity or pathogenicity of the variant&#44; so we proceeded to study the segregation of this in his three sons&#44; showing that all three had the same change in the <span class="elsevierStyleItalic">SLC34A3 </span>gene<span class="elsevierStyleItalic"> </span>in heterozygosis &#40;carriers&#41;&#46; We were not able to carry out the study of the messenger RNA &#40;mRNA&#41;&#46; The metabolic and renal function study of the three children was normal&#44; except that the two boys only had mild hypercalciuria&#46;<span class="elsevierStyleSup">13&#46;14</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">DISCUSSION</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">HHRH was first described in 1985 by Tieder et al&#46; in a Bedouin family&#44; expounding the cases of six affected members&#46;<span class="elsevierStyleSup">4</span> This is a very rare process that is transmitted in an autosomal recessive manner and is manifest from childhood&#46; Patients with this disease have rickets&#44; bone deformities&#44; short stature&#44; muscle weakness and bone pain&#46; The condition is characterized by secondary hypophosphatemic rickets&#47;osteomalacia to excessive loss of renal phosphate and at an elevation of 1&#44;25 OH<span class="elsevierStyleInf">2 </span>circulating vitamin D<span class="elsevierStyleInf">3</span>&#44; as a response to the hypophosphatemia&#46; Consequently&#44; hypercalciuria appears&#44; due to an increase in gastrointestinal absorption of calcium and phosphorus&#44; with depression of parathyroid function&#46; Hypercalciuria and elevated levels of 1&#46;25<span class="elsevierStyleInf">2 OH</span> vitamin D<span class="elsevierStyleInf"> 3</span> are precisely those that differentiate the HHRH from other forms of rickets&#47;hypophosphatemic osteomalacia&#46;<span class="elsevierStyleSup">2&#44;15&#44;16</span> As a result of the hypercalciuria&#44; it can originate a nephrocalcinosis or lithiasis&#44; as well as a kidney failure&#46;</p><p class="elsevierStylePara">It has recently been published that HHRH &#40;OMIM&#35;241530&#41; is due to mutations in the<span class="elsevierStyleItalic"> SLC34A3 </span>gene<span class="elsevierStyleItalic">&#44;</span> located in the chromosomal locus 9q34 that encodes the sodium-phosphate cotransporter IIc &#40;NaPi-IIc&#41;&#44; which is expressed in the apical membrane of renal proximal tubular cells and that normally regulates the reabsorption of phosphate filtering&#44; under the control of the PTH and fibroblast growth factor &#40;FGF23&#41;&#46; Function-loss mutations in <span class="elsevierStyleItalic">SLC34A3 </span>cause increased phosphate excretion at proximal level&#44; characteristic of the disease<span class="elsevierStyleSup">2&#44;10&#44;13 </span>which can give rise to different phenotypic changes &#40;Figure 1&#41;&#46;<span class="elsevierStyleSup">17&#44;18</span></p><p class="elsevierStylePara">In studies of patients with HHRH it has been shown that by simply using a phosphate salt supplement orally all the clinical&#44; biochemical analytical and radiographic features of the condition may be corrected except for the excessive loss of renal phosphate&#46; This suggests that hypophosphatemia&#44; in the absence of alterations in the of vitamin D metabolism&#44; play an important role in bone metabolism&#46;<span class="elsevierStyleSup">6&#46;8</span></p><p class="elsevierStylePara">On the other hand&#44; since the nephrocalcinosis is probably linked to the hypercalciuria&#44; the administration of calcitriol&#44; calcium or the failure of the treatment with the phosphorus supplementation can promote renal deposits of calcium and overshadow the prognosis in these patients&#46;<span class="elsevierStyleSup">6&#46;8</span></p><p class="elsevierStylePara">Currently it is considered that there is a bone-kidney axis in which multiple genes are involved and which regulates the metabolism of phosphorus and the mineralization of bone matrix&#46; The main exponent of this axis is FGF23&#44; the first phosphatonin that was discovered and that is produced by the osteocytes&#46; The NaPi-IIc&#44; together with other proteins such as PHEX&#44; MEPE and DMP1&#44; participate in the regulation of the axis &#40;Table 2&#41;&#46;<span class="elsevierStyleSup">2&#46;3&#44;19&#44;20</span></p><p class="elsevierStylePara">The patient described in this study met all the clinical and laboratory characteristics compatible with HHRH&#46; Rickets&#47;hypophosphatemic osteomalacia and to the diminished tubular reabsorption of phosphate associated with an elevation of the 1&#44;25 OH<span class="elsevierStyleInf">2</span> circulating vitamin D<span class="elsevierStyleInf">3</span> and a hypercalciuria&#46; This ruled out XLRH&#44; which is the most common form of hereditary hypophosphatemic rickets that is due to inactivating mutations in the gene<span class="elsevierStyleItalic"> PHEX</span> &#40;OMIM&#35; 307800&#41; and where the PTH is normal and the 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamin D<span class="elsevierStyleInf">3</span> abnormally low for the phosphatemia levels&#46;<span class="elsevierStyleSup">3&#46;15&#44;20</span> For the same reason&#44; three more forms of hypophosphatemic rickets could also be ruled out&#58; tumour-induced hypophosphatemia&#44; which is secondary to various phosphatonins secreted by benign tumours of mesenchymal origin &#40;SFRP-4&#44; MEPE&#44; FGF-7&#41;<span class="elsevierStyleSup">20</span>&#59; the autosomal dominant hypophosphatemic rickets&#44; which is a form of hypophosphatemic rickets very rare with variable penetrance&#44; biochemically similar to XLRH and due to mutations in the gene <span class="elsevierStyleItalic">FGF23</span> &#40;OMIM&#35; 193100&#41;&#44;<span class="elsevierStyleSup">21</span> and autosomal recessive hypophosphatemic rickets &#40;OMIM&#35; 241520&#41;&#44; caused by mutations in the gene<span class="elsevierStyleItalic"> DMP1&#46;</span><span class="elsevierStyleSup">20</span> Finally&#44; the absence of a tubular proteinuria also ruled out Dent&#39;s disease&#44; an X chromosome-linked entity caused by mutations in the<span class="elsevierStyleItalic"> CNCL5 </span><span class="elsevierStyleItalic">gene</span> encoding the electrogenic Cl<span class="elsevierStyleSup">-</span>&#47;H<span class="elsevierStyleSup">&#43; </span>exchanger of the chloride channel family&#44; which is expressed in endosomes of the proximal tubular epithelium and also show hypercalciuria &#40;Table 2&#41;&#46;<span class="elsevierStyleSup">22</span></p><p class="elsevierStylePara">Our patient had an incomplete renal tubular acidosis&#44; clearly reflected in the acidification test&#46; Patients with hypercalciuria and nephrocalcinosis are known to present abnormal renal acidification capacity and acidosis as a consequence of &#160;nephrocalcinosis&#46; The renal failure present in our patient also was secondary to the nephrocalcinosis&#44; rather than directly related to the <span class="elsevierStyleItalic">SLC34A3 </span>mutation&#46;<span class="elsevierStyleSup">23-25</span></p><p class="elsevierStylePara">The molecular study showed a homozygotic change in intron 5 of the <span class="elsevierStyleItalic">SLC34A3 </span>gene &#40;NM&#95;080877&#46;2&#58;c&#91; 448 &#43;5G&#62;A&#93; &#43; &#91; 448&#43; 5G&#62;A&#93; &#41;&#46; The fact that the three healthy children of the patient presented the same sequence variation in the <span class="elsevierStyleItalic">SLC34A3 </span>gene<span class="elsevierStyleItalic"> </span>in heterozygosis and that the two boys presented hypercalciuria would suggest that the genetic alteration detected being was the cause of hypophosphatemic rickets&#46; A mutation located also in intron 5 &#40;NM&#95;080877&#46;2&#58;c&#46;448 &#43;1G&#62;A&#41;&#44; which was very close to the variant found in our patient&#44; has been recently described&#46;<span class="elsevierStyleSup">17</span></p><p class="elsevierStylePara">In conclusion&#44; we present a patient with hypophosphatemic rickets that&#44; according to the clinical symptoms&#44; the biochemical signs and genetic study&#44; is compatible with HHRH&#46; Early diagnosis and treatment are essential for preventing bone sequelae of rickets and nephrocalcinosis&#46; The correct distinction with the other forms of hypophosphatemic rickets has implications in the treatment&#44; since the isolated administration of phosphorus supplements corrects all clinical and biochemical alterations&#44; except the loss of phosphate in the urine&#46; The contribution of exogenous calcitriol as recommended in other cases of hypophosphatemic rickets&#44; can favour renal deposits of calcium and the emergence of nephrocalcinosis&#44; as well as worsen their prognosis&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleItalic">Molecular study conducted at the Institut f&#252;r Humangenetik des KlinikuMs rechts der Isar der Technischen Universit&#228;t M&#252;nchen&#46; Direcktor&#58; Univ&#46; Prof&#46; Med&#46; Th&#46; Meitinger POLIKLINIK&#46;</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors state that they have no potential conflicts of interest related to the contents of this article&#46;<span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><a href="grande&#47;11321&#95;16025&#95;33145&#95;en&#95;11321t1&#46;jpg" class="elsevierStyleCrossRefs"><img src="11321_16025_33145_en_11321t1.jpg" alt="Biochemical parameters of the patient with HHRH"></img></a></p><p class="elsevierStylePara">Table 1&#46; Biochemical parameters of the patient with HHRH</p><p class="elsevierStylePara"><a href="grande&#47;11321&#95;16025&#95;33146&#95;en&#95;11321t2&#46;jpg" class="elsevierStyleCrossRefs"><img src="11321_16025_33146_en_11321t2.jpg" alt="Types of hypophosphatemic rickets&#44; genes and biochemical characteristics of each one of them"></img></a></p><p class="elsevierStylePara">Table 2&#46; Types of hypophosphatemic rickets&#44; genes and biochemical characteristics of each one of them</p><p class="elsevierStylePara"><a href="grande&#47;11321&#95;16025&#95;33147&#95;en&#95;11321f1&#46;jpg" class="elsevierStyleCrossRefs"><img src="11321_16025_33147_en_11321f1.jpg" alt="Schematic representation of the reabsorption of phosphorus in the apical membrane of proximal tubule and the biochemical consequences of the mutations with loss of function in the gene SLC34A3&#46;"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Schematic representation of the reabsorption of phosphorus in the apical membrane of proximal tubule and the biochemical consequences of the mutations with loss of function in the gene SLC34A3&#46;</p>"
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        "resumen" => "<p class="elsevierStylePara">Presentamos el caso cl&#237;nico de un var&#243;n de 50 a&#241;os de edad que consulta por presentar una enfermedad renal liti&#225;sica recidivante y una nefrocalcinosis&#46; En la exploraci&#243;n cl&#237;nica destac&#243; una talla baja y un <span class="elsevierStyleItalic">genu varo</span> bilateral importante&#46; Entre los datos bioqu&#237;micos se apreciaba una p&#233;rdida renal de fosfatos intensa con hipofosfatemia&#44; una 25 OH vitamina D<span class="elsevierStyleInf">3</span> normal&#44; una 1&#44;25 OH<span class="elsevierStyleInf">2</span> vitamina D<span class="elsevierStyleInf">3</span> elevada y una hipercalciuria&#46; La hormona paratiroidea &#40;PTHi&#41; se encontraba disminuida y en la ecograf&#237;a renal se confirm&#243; la existencia de una nefrocalcinosis bilateral grave&#44; localizada en la m&#233;dula renal&#46; Adem&#225;s&#44; se constat&#243; una insuficiencia renal cr&#243;nica incipiente y una acidosis tubular renal incompleta&#44; ambas secundarias a la nefrocalcinosis y no directamente relacionadas con la enfermedad basal&#46; En el estudio molecular se encontr&#243; un cambio en homocigosis en el intr&#243;n 5 del gen <span class="elsevierStyleItalic">SLC34A3</span> &#40;NM&#95;080877&#46;2&#58;c&#91;448&#43;5G&#62;A&#93;&#43;&#91;448&#43; 5G&#62;A&#93;&#41;&#46; Sus tres hijos eran portadores de esta misma variante en heterocigosis y&#44; aunque cl&#237;nicamente estaban asintom&#225;ticos&#44; dos de ellos ten&#237;an una hipercalciuria&#46; Todos estos datos parec&#237;an indicar que el paciente presentaba un raquitismo hipofosfat&#233;mico hereditario con hipercalciuria &#40;HHRH&#41;&#44; secundario a una alteraci&#243;n en el cotransportador sodio-fosfato IIc &#40;NaPi-IIc&#41;&#44; localizado en el t&#250;bulo proximal&#46; El HHRH se transmite de forma autos&#243;mica recesiva y es una forma muy rara de raquitismo hipofosfat&#233;mico&#46; El diagn&#243;stico y el tratamiento son fundamentales para evitar las secuelas &#243;seas del raquitismo y la nefrocalcinosis&#46; La distinci&#243;n correcta con las otras formas de raquitismo hipofosfat&#233;mico tiene implicaciones en el tratamiento&#44; ya que normalmente la administraci&#243;n aislada de suplementos de f&#243;sforo corrige todas las alteraciones cl&#237;nicas y bioqu&#237;micas&#44; excepto la p&#233;rdida de fosfato por la orina&#46; El aporte ex&#243;geno de calcitriol&#44; como se aconseja en otros raquitismos hipofosfat&#233;micos&#44; puede favorecer los dep&#243;sitos renales de calcio y la aparici&#243;n de nefrocalcinosis&#44; as&#237; como empeorar su pron&#243;stico&#46;</p>"
      ]
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        "resumen" => "<p class="elsevierStylePara">We report a case of a male aged 50 years who consulted for renal disease recurrent lithiasis and nephrocalcinosis&#46; The clinical examination showed external signs of rickets&#47;osteomalacia and biochemical data as well as a severe loss of renal phosphate with hypophosphatemia&#44; normal 25 OH vitamin D&#44; high 1&#44;25 OH vitamin D and hypercalciuria&#46; Parathyroid hormone was low and renal ultrasound confirmed the existence of severe bilateral medullary nephrocalcinosis&#46; They also found incipient chronic renal failure and incomplete renal tubular acidosis&#44; both secondary to nephrocalcinosis and unrelated to the underlying disease&#46; The molecular study found a change in homozygosity in intron 5 of gene <span class="elsevierStyleItalic">SLC34A3</span> &#40;NM&#95;080877&#46;2&#58;c&#91; 448 &#43;5G&#62;A&#93; &#43; &#91; 448 &#43;5G&#62;A&#93; &#41;&#46; His three children were carriers of the same variant in heterozygosis and although they were clinically asymptomatic two of them had hypercalciuria&#46; All these data suggest that the patient had hereditary hypophosphataemic rickets with hypercalciuria &#40;HHRH&#41; secondary to an alteration in the sodium dependent phosphate cotransporter located in proximal tubule &#40;NaPi-IIc&#41;&#46; The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets&#46; The diagnosis and treatment are essential to prevent bone sequelae of rickets and nephrocalcinosis&#46; A correct differential diagnosis with other forms of hypophosphatemic rickets has implications on the treatment&#44; as the management based only on phosphorus supplementation usually corrects all clinical and biochemical abnormalities&#44; except for the loss of phosphorus in the urine&#46; The exogenous supply of calcitriol&#44; as advised in other hypophosphatemic rickets&#44; may induce renal calcium deposits and nephrocalcinosis and worsens the prognosis&#46;</p>"
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ISSN: 20132514
Original language: English
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