Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

Abstract Background Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT). Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-ald...

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Bibliographic Details
Main Authors: Bingzi Dong, Ying Chen, Xinying Liu, Yangang Wang, Fang Wang, Yuhang Zhao, Xiaofang Sun, Wenjuan Zhao
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Nephrology
Subjects:
Hypokalemia
Gitelman syndrome
SLC12A3
Hypercalciuria
Online Access:http://link.springer.com/article/10.1186/s12882-020-01996-2

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http://link.springer.com/article/10.1186/s12882-020-01996-2

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