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Medientyp:
E-Artikel
Titel:
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis
Beteiligte:
Jobst-Schwan, Tilman;
Pannes, Andrea;
Schlingmann, Karl Peter;
Eckardt, Kai-Uwe;
Beck, Bodo B.;
Wiesener, Michael S.
Erschienen:
S. Karger AG, 2015
Erschienen in:
Kidney and Blood Pressure Research, 40 (2015) 5, Seite 443-451
Sprache:
Englisch
DOI:
10.1159/000368520
ISSN:
1420-4096;
1423-0143
Entstehung:
Anmerkungen:
Beschreibung:
<b><i>Background/Aims: </i></b>Hypercalcemia can result in nephrocalcinosis/nephrolithiasis and may lead to renal failure. Idiopathic infantile hypercalcemia is caused by mutations of the <i>CYP24A1</i> gene, which regulates vitamin D activity. Classically infants present with hypercalcemia. Recently, a number of individuals have been reported with late onset clinical manifestation or late diagnosis in adulthood. All these patients are believed to show hypercalciuria. <b><i>Methods: </i></b>We report a 24 year old patient of healthy consanguine parents. Genetic analysis was performed by Sanger sequencing of the <i>CYP24A1</i> gene in the index patient and targeted exon 2 analysis of all other family members. <b><i>Results: </i></b>The patient was hospitalized with severe malaise during an acute EBV-infection. He showed hypercalcemia > 3mmol/l and acute, hypovolemic renal failure with profound nephrocalcinosis, but no hypercalciuria. Genetic workup revealed a homozygous loss-of-function mutation p.E143del in the <i>CYP24A1</i> gene. His clinically asymptomatic brother showed nephrocalcinosis of lesser degree. Repeatedly, low parathyroid hormone levels were detected in both brothers. <b><i>Conclusion: </i></b>This family displays the highly variable phenotype of <i>CYP24A1 </i>biallelic mutation carriers. <i>CYP24A1</i> associated disease is an important differential diagnosis for the workup and counseling of infants as well as adults with hypercalcemia since a proper genetic diagnosis may result in therapeutic consequences.