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

doi:10.2169/internalmedicine.36.582

Kazuhisa TAKEUCHI, Taro KATO, Yoshihiro TANIYAMA, Kazuo TSUNODA, Nobuyuki TAKAHASHI, Yukio IKEDA, Ken OMATA, Yutaka IMAI, Takao SAITO, Sadayoshi ITO, Keishi ABE

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Keywords: Bartter's syndrome, secondary aldosteronism, missense mutation, restriction fragment length polymorphism

JOURNAL FREE ACCESS

1997 Volume 36 Issue 8 Pages 582-585

DOI https://doi.org/10.2169/internalmedicine.36.582

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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.
(Internal Medicine 36: 582-585, 1997)

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