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Updated: Mar 30, 2026

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Gitelman syndrome due to p.A204T mutation in CLCNKB gene
R Enríquez1, V Adam, A E Sirvent
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.
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