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Article

A pedigree analysis of two homozygous mutant Gitelman syndrome cases.

Endocrine journal - 1 Jan 2015

Luo Jiewei, Yang Xiao, Liang Jixing, Li Weihua

Abstract excerpt

Gitelman syndrome (GS) is a salt-wasting tubulointerstitial disease of autosomal recessive inheritance (OMIM613395) caused by genic mutation of SLC12A3, which codes thiazide-sensitive Na-Cl cotransporter (NCCT) gene. The gene mutation of the majority of GS patients is compound heterozygous. This study analyzes two cases of GS gene mutation and the clinical phenotype. Twenty patients of two GS pedigrees underwent...

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PMID: 25273610
DOI: 10.1507/endocrj.EJ14-0289

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