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Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Clinical and experimental nephrology - 1 Apr 2017

Wang Fen, Shi Chuan, Cui Yunying, Li Chunyan, Tong Anli

Abstract excerpt

BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessive disease caused by loss-of-function mutations in the SLC12A3 gene, and is characterized by hypokalemia and metabolic alkalosis. In this study, we aimed to study the genotype, phenotype, and treatment in 42 GS patients, the largest sample size so far in mainland China. METHOD: We retrospectively studied the clinical data and genetic characteristics of...

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PMID: 27216017
DOI: 10.1007/s10157-016-1284-6

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