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Int Urol Nephrol. 2010 Dec;42(4):1099-102. doi: 10.1007/s11255-010-9850-4. Epub 2010 Oct 8.

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

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  • 1Nephrology Section, Hospital General de Elche, Camí de L'Almazara, 03203 ELCHE, Alicante, Spain. ricardoemilio@orange.es

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.

PMID:
20931281
[PubMed - indexed for MEDLINE]
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