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Article

Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Feb 2004

Lin Shih-Hua, Cheng Nai-Lin, Hsu Yu-Juei, Halperin Mitchell L

Abstract excerpt

BACKGROUND: Gitelman syndrome (GS) most often results from mutations in the thiazide-sensitive sodium chloride cotransporter (NCC). Although the severity of symptoms may vary in patients who have the same mutations, a markedly different clinical presentation in family members with identical mutations is truly rare. METHODS: Five patients (3 women and 2 men) belonging to 2 unrelated Chinese families were...

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Source

Identifiers

PMID: 14750096
DOI: 10.1053/j.ajkd.2003.10.018

Genes

CLCNKB

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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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