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

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-aldosterone...

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Vydáno v:BMC Nephrol
Hlavní autoři: Dong, Bingzi, Chen, Ying, Liu, Xinying, Wang, Yangang, Wang, Fang, Zhao, Yuhang, Sun, Xiaofang, Zhao, Wenjuan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7409507/
https://ncbi.nlm.nih.gov/pubmed/32758178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-01996-2
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