Three Cases of Gitelman's Syndrome Possibly Caused by Different Mutations in the Thiazide-Sensitive Na-Cl Cotransporter

Kazuhisa Takeuchi, Taro Kato, Yoshihiro Taniyama, Kazuo Tsunoda, Nobuyuki Takahashi, Yukio Ikeda, Ken Omata, Yutaka Imai, Takao Saito, Sadayoshi Ito, Keishi Abe

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

Abstract

Three adult Japanese cases of Gitelman's syndrome were characterized by secondary aldosteronism, hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. Two were revealed to be familial cases. A mutation in the thiazide-sensitive Na-Cl cotransporter gene, which had already been confirmed in one family (Takeuchi et al. J Clin Endocrinol Metab 81: 4496, 1996), was not detected in the other two cases. These observations may possibly support the previous report (Simon et al. Nature Genet 12: 24, 1996) that Gitelman's syndrome is caused by a variety of mutations in the thiazide-sensitive Na-Cl cotransporter.

Original languageEnglish
Pages (from-to)582-585
Number of pages4
JournalInternal Medicine
Volume36
Issue number8
DOIs
Publication statusPublished - 1997

Keywords

  • Bartter's syndrome
  • Missense mutation
  • Restriction fragment length polymorphism
  • Secondary aldosteronism

ASJC Scopus subject areas

  • Internal Medicine

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