Article
A New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.
Clinical laboratory - 1 Aug 2024
Chen Guoping, Hong Pingping
Abstract excerpt
BACKGROUND: Type III Bartter syndrome (BS) is an autosomal recessive renal tubular disease caused by the mutation of the chloride voltage-gated channel Kb (CLCNKB) gene. This condition is characterized by renal sodium loss, hypokalemia, metabolic alkaliosis, high renin, and high aldosterone levels. METHODS: We report a case of adult type III BS caused by a novel complex heterozygous mutation of the CLCNKB gene....
Topics
- Humans
- Bartter Syndrome
- Chloride Channels
- Heterozygote
- Mutation
- Adult
- Male
- Female
- Exons
- DNA Mutational Analysis
- Codon, Nonsense