Referenced in: none

Automatically associated channels: ClC4 , ClCK2

Title: Gitelman syndrome due to p.A204T mutation in CLCNKB gene.

Authors: R Enríquez, V Adam, A E Sirvent, A B García-García, I Millán, F Amorós

Journal, date & volume: Int Urol Nephrol, 2010 Dec , 42, 1099-102

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20931281

Abstract
A 45-year-old woman presented with phenotypical features suggestive of Gitelman syndrome (adult age at diagnosis, normal-low blood pressure, hypokalaemia, metabolic alkalosis, hypomagnesaemia, and hypocalciuria). Mutational analysis revealed no significant abnormality in SLC12A3 gene, but homozygous p.A204T mutation was found in the CLCNKB gene. This is a founder effect mutation described in Spanish patients with classic and atypical Bartter syndrome. This report confirms previous descriptions and expands the clinical spectrum of this mutation.