Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter |
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Authors: | K Takeuchi T Kato Y Taniyama K Tsunoda N Takahashi Y Ikeda K Omata Y Imai T Saito S Ito K Abe |
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Affiliation: | Second Department of Internal Medicine, Tohoku University School of Medicine, Aoba-ku, Sendai. |
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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. |
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