Gitelman’s Syndrome

Overview

The author presents a case-report of an adolescent female, who was sent to examination in internal departmentdue 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. Evenafter 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 diagnosisof tubulopathy - Gitelman’s syndrome. The author presents a summary of clinical symptoms, diagnostics andtherapy of the autosomal recessive disease.

Key words:
Gitelman’s syndrome, Bartter’s syndrome, tubulopathy, metabolic hypokalemic alkalosis