Gitelman˚Uv syndrom

The author presents a case-report of an adolescent female, who was sent to examination in internal department due to one-day history of vomiting with paresthesia of face, tongue and the upper limbs spasms. After receptioninto internal clinic was found out metabolic alkalosis, significant hypokalemia and mild hypomagnesemia. Even after repeating parenteral substitution it wasn't possible to reach the normal potassium and magnesium values. Next examination proved hyperkaliuria, hypermagnesiuria, hypocalciuria - it was expressed suspicion of diagnosis of tubulopathy - Gitelman's syndrome. The author presents a summary of clinical symptoms, diagnostics and therapy of the autosomal recessive disease.