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Article

Bartter's and Gitelman's syndromes: from gene to clinic.

Nephron. Physiology - 1 Jan 2004

Naesens Maarten, Steels Paul, Verberckmoes René, Vanrenterghem Yves, Kuypers Dirk

Abstract excerpt

Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channels that can be held responsible for Bartter's and Gitelman's syndromes. Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK,...

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Identifiers

PMID: 15056980
DOI: 10.1159/000076752

Genes

BSND
CASR

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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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