3 CASES OF GITELMANS-SYNDROME POSSIBLY CAUSED BY DIFFERENT MUTATIONS IN THE THIAZIDE-SENSITIVE NA-CL COTRANSPORTER

Three adult Japanese cases of Gitelman's syndrome were characterized b y secondary aldosteronism, hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. Two were revealed to be familial cases. A mutation in t he 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 tow cases. These observatio ns may possibly support the previous report (Simon et al. Nature Genet 12: 24, 1996) that Gitelman's syndrome is caused by a variety of muta tions in the thiazide-sensitive Na-Cl cotransporter.