Open AccessFamilial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
Author(s) -
A. Godron,
Jérôme Harambat,
Valérie Boccio,
A Mensire,
Adrien May,
Claire Rigothier,
Lionel Couzi,
Benoı̂t Barrou,
M. Godin,
Dominique Chauveau,
Stanislas Faguer,
Marion Vallet,
Pierre Cochat,
Philippe Eckart,
Geneviève Guest,
Vincent Guigonis,
Pascal Houillier,
Anne Blanchard,
Xavier Jeunemaı̂tre,
Rosa VargasPoussou
Publication year - 2012
Publication title -
clinical journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.755
H-Index - 151
eISSN - 1555-905X
pISSN - 1555-9041
DOI - 10.2215/cjn.12841211
Subject(s) - nephrocalcinosis , hypercalciuria , medicine , hypomagnesemia , hypokalemia , gastroenterology , endocrinology , pediatrics , kidney , calcium , materials science , magnesium , metallurgy
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in CLDN16 and CLDN19, encoding claudin-16 and -19, respectively. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is usually complicated by progressive CKD. The objectives of this study were to describe the clinical and genetic features of familial hypomagnesemia with hypercalciuria and nephrocalcinosis and analyze phenotype-genotype associations in patients with CLDN16 or CLDN19 mutations.
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