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Article

Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2003

Yoo Tae-Hyun, Lee Sang-Ho, Yoon KyungSik, Baek HaengWoon, Chung Joo-Ho, Lee TaeWon, Ihm ChunGyoo, Kim MyungJae

Abstract excerpt

The authors report the case of a 20-year-old man with unexplained hypokalemia and metabolic alkalosis suggesting hypokalemic tubulopathy. Interestingly, he showed a mixed phenotype of Gitelman's syndrome (GS) and Bartter's syndrome, which includes normomagnesemia, normal renal magnesium excretion, and hypocalciuria. Renal clearance study showed the presence of a critical defect in the distal nephron rather than...

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Source

Identifiers

PMID: 14655226
DOI: 10.1053/j.ajkd.2003.08.035

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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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Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.PMID 14655226Read ↗

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