Gitelman's syndrome: an overlooked cause of chronic hypokalemia and hypomagnesemia in adults

Abstract

In 1966, Gitelman described a benign variant of classical Bartter's syndrome in adults characterized by consistent hypomagnesemia and hypocalciuria, hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal blood pressure. A specific gene has been found responsible for this disorder, encoding the thiazide-sensitve Na-Cl coporter (TSC) in the distal convoluted tubule. Mutant alleles result in loss of normal TSC function and the phenotype is identical to patients with chronic use of thiazide diuretics. Gitelman's syndrome is a more common cause of chronic hypokalemia than Bartter's syndrome, with which it is often confused. The distinguishing features between both syndromes are discussed.