Article
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Clinical journal of the American Society of Nephrology : CJASN - 1 May 2012
Godron Astrid, Harambat Jérôme, Boccio Valérie, Mensire Anne, May Adrien, Rigothier Claire, Couzi Lionel, Barrou Benoit, Godin Michel, Chauveau Dominique, Faguer Stanislas, Vallet Marion, Cochat Pierre, Eckart Philippe, Guest Geneviève, Guigonis Vincent, Houillier Pascal, Blanchard Anne, Jeunemaitre Xavier, Vargas-Poussou Rosa
Abstract excerpt
BACKGROUND AND OBJECTIVES: 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...
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