Article
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis.
Molecular genetics & genomic medicine - 1 Oct 2022
Zhao Qianying, Xiang Qinqin, Tan Yu, Xiao Xiao, Xie Hanbing, Wang He, Yang Mei, Liu Shanling
Abstract excerpt
BACKGROUND: Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC-Kb, and is characterized by renal salt wasting, hypokalemia, metabolic alkalosis, increased renin, and aldosterone levels. METHODS: A 2-year-old boy presented severe malnutrition, severe metabolic alkalosis and severe hypokalemia and...
Topics
- Aldosterone
- Alkalosis
- Bartter Syndrome
- Child, Preschool
- China
- Chloride Channels
- Humans
- Hypokalemia
- Male
- Mutation
- Nucleotides
- Renin