Gitelman's syndrome in two members of the same family

Two cases of Gitelman's syndrome in br others aged of 15 and 25 years are r eported. The identification of the syndrome was fortuitous because the only symptoms felt by two brothers were asthenia and occasional nicturia appear ed during puberty. Both cases presented hypokalemia, metabolic alkalosis, h yperreninemia without hypertension, hypomagnesemia. Only one of the two bro thers showed hypocalciuria and this appears as a particularity of our case, as hypocalciuria is considered specific for this syndrome. The variability of biochemical data is to be considered as the expression of genetic heter ogeneity. ECG showed abnormal ripolarization in both cases. The diagnosis was confirmed by dynamic tests (free water clearance Henle's loop stimulation with Furosemide and distal tubule stimulation with Hydroch lorothiazide). No abnormalities in parents confirm the recessive authosomic transmission o f the syndrome and the casual recurrence into brothers. The patients were treated with Aldactone as a consequence of the severe rip olarization abnormalities and the hypokalemia. After treatment, the biochem ical data and the ECG showed a normalization and the asthenia disappeared.