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Article

Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.

Pediatric research - 1 Dec 2000

Jeck N, Konrad M, Peters M, Weber S, Bonzel K E, Seyberth H W

Abstract excerpt

Gitelman syndrome is an inherited renal disorder characterized by impaired NaCl reabsorption in the distal convoluted tubule and secondary hypokalemic alkalosis. In clinical practice, it is distinguished from other hypokalemic tubulopathies by the presence of both hypomagnesemia and normocalcemic hypocalciuria. To date, only mutations in a single gene encoding the thiazide-sensitive NaCl cotransporter have been...

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Share to Anion Transport Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11102542
DOI: 10.1203/00006450-200012000-00009

Genes

CLCNKB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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