Sindrome di Gitelman in due componenti della stessa famiglia

Two cases of Gitelman's syndrome in brothers aged of 15 and 25 years are reported. The identification of the syndrome was fortuitous because the only symptoms felt by two brothers were asthenia and occasional nicturia appeared during puberty. Both cases presented hypokalemia, metabolic alkalosis, hyperreninemia without hypertension, hypomagnesemia. Only one of the two brothers 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 heterogeneity. 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 Hydrochlorothiazide). No abnormalities in parents confirm the recessive authosomic transmission of the syndrome and the casual recurrence into brothers. The patients were treated with Aldactone as a consequence of the severe ripolarization abnormalities and the hypokalemia. After treatment, the biochemical data and the ECG showed a normalization and the asthenia disappeared.