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Article

Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.

American journal of physiology. Renal physiology - 1 Oct 2018

Wang Chunli, Chen Ying, Zheng Bixia, Zhu Mengshu, Fan Jia, Wang Juejin, Jia Zhanjun, Huang Songming, Zhang Aihua

Abstract excerpt

Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c.1755A>G). Compound heterozygosity was confirmed by amplifying...

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Identifiers

PMID: 29442545
DOI: 10.1152/ajprenal.00077.2017

Genes

CLCNKB

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