ACC Fu, KP Lee, LCT Tong

Abstract

Gitelman's syndrome is a rare heritable primary renal tubular disorder, characterised by hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. Most of them run a benign course. If present, symptoms include fatigue and muscle weakness. Rarely serious symptoms like cardiac arrest have been reported. Treatment is by magnesium supplement, potassium supplement or potassium-sparing diuretics. This report reviews incidental finding of Gitelman syndrome in an asymptomatic teenager and emphasizes clinical, laboratory and molecular features of the disease.