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Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.

Internal medicine (Tokyo, Japan) - 1 Aug 1997

Takeuchi K, Kato T, Taniyama Y, Tsunoda K, Takahashi N, Ikeda Y, Omata K, Imai Y, Saito T, Ito S, Abe K

Abstract excerpt

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...

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PMID: 9260778
DOI: 10.2169/internalmedicine.36.582

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Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.PMID 9260778Read ↗

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