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

Tae Hyun Yoo, Sang Ho Lee, Kyung Sik Yoon, Haeng Woon Baek, Joo Ho Chung, Tae Won Lee, Chun Gyoo Ihm, Myung Jae Kim

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

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 loop of Henle. Further family study showed that his mother had a definitive phenotype of GS. By the molecular genetic analysis of these patients, 7 different mutations of the NCCT gene were identified consisting of 3 missense, 1 splice site, and 3 silent mutations. Four of these mutations were novel. The authors emphasize that the combination of a molecular genetic approach and renal clearance study could be of practical benefit in confusing clinical setting and support new diagnostic criteria in GS.

Original languageEnglish
Pages (from-to)E11-16
JournalAmerican journal of kidney diseases : the official journal of the National Kidney Foundation
Volume42
Issue number6
Publication statusPublished - 2003 Dec

All Science Journal Classification (ASJC) codes

  • Nephrology

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