Diagnostic experience on familial Gitelman syndrome

Objective To report two cases of familial Gitelman syndrome and literature review regarding the updates of relevant genes, classification, treatment, and prognosis. Methods The clinical data of two sisters with Gitelman syndrome were retrospectively analyzed. Results Their blood pressures were within normal range. Hypokalaemic alkalosis, hypomagnesemia, and hypocalciuria were corrected almost completely after three days of intravenous magnesium and potassium infusion, spirolactone and indometacin. However, the maintenance of normal potassium was unsuccessful over one year. Conclusion Hypokalaemic alkalosis, hypomagnesemia, and hypocalciuria were normalized in Gitelman syndrome. There was some debate in regard to using PGE2 synthetase inhibitors. Tolerance of long-term medication will be the big challenge for curative effect.(Chin J Endocrinol Metab, 2015, 31: 1051-1054) Key words: Gitelman syndrome; Hypokalemia; Hypomagnesemia; Prognosis