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Article

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

International urology and nephrology - 1 Dec 2010

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

Abstract excerpt

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...

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Identifiers

PMID: 20931281
DOI: 10.1007/s11255-010-9850-4

Genes

CLCNKB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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