Gitelman’s Syndrome

Overview

Gitelman’s syndrome is a hereditary renal disorder with hypomagnesaemia, hypokalaemia and hypokalciuria,distinct from Bartter’s syndrome. As compared to those with Bartter’s syndrome, patients with Gitelman’ssyndrome present at an older age, and they have a milder clinical picture, normal or slightly decreased concentratingability, reduced urinary excretion of calcium, and permanently decreased serum magnesium level. Gitelman’ssyndrome is caused by defective NaCl transport in the distal convoluted tubule and linked to the gene encodingthe thiazide sensitive Na-Cl cotransporter located on chromosome 16q.Replacement of magnesium salt is indicated in treatment of Gitelman’s syndrome. Long-term prognosis interms of maintaining growth, preserving renal function and quality of life are favourable.

Key words:
Gitelman’s syndrome, hypokalaemia, Bartter’s syndrome, sodium chloride cotransporter