Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome

Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutation in the thiazide-sensitive NaCl co-transporter (NCCT). The main clinical symptoms are: muscular weakness. carpopedal spasm, const ipation and short stature. The diagnosis was suspected in five children acc ording to clinical criteria, All patients exhibited carpopedal spasm during febrile illness, three patients had short stature. Biochemical features we re: metabolic alkalosis, hypokalemia, hypomagnesemia, low ICF-I levels, hyp erkaliuria, hypernatriuria, hypocalciuria and normoprostaglandinuria. Three patients had elevated plasma renin activity and hyperaldosteronism. Mutati onal analysis of the NCCT gene confirmed the diagnosis in all five patients . Different forms of therapy, potassium and magnesium substitution, spirono lactone and indomethacin failed to fully correct hypokalemia and hypomagnes emia, but markedly improved growth velocity and normalized ICF-I levels in the three patients with short stature, During therapy, clinical symptoms di sappeared. We conclude that Gitelman's syndrome is a disorder with a variab le symptom profile, but can be suspected on clinical signs already in early childhood. The early diagnosis is essential in preventing complications.