Gitelman Syndrome – A Case Report

Abstract

Hypokalaemia is an electrolyte disorder, commonly encountered in clinical practice. Sometimes, it may present with severe life-threatening complications. We present here a case of 22-year-old female, who was admitted to intensive care unit, for severe hypokalaemia associated with cardiac and neurological complications. She had recurrence of such episodes. On detailed clinical and biochemical evaluation, she was diagnosed to have Gitelman syndrome (GS). She was treated with intravenous potassium and magnesium supplementation under cardiac monitoring and other supportive management. She was discharged in stable condition, on oral supplements, and remained stable on follow-up visits. GS is an autosomal recessive and renal tubular disorder characterised by hypokalaemic metabolic alkalosis with hypomagnesaemia, hypocalciuria, secondary hyperreninemic aldosteronism and hypotension. The disease is caused by biallelic inactivating mutations within the SLC12A3 gene encoding the thiazide-sensitive sodium chloride cotransporter expressed within the apical membrane of cells, lining the distal convoluted tubule. Since GS is an autosomal recessive trait, the recurrence risk for people with an affected child is 25%. It is very important to completely evaluate a patient with hypokalaemia to find the underlying cause. There can be various etiological factors for hypokalaemia ranging from common to rare disorders. If underlying aetiology remains undiagnosed, there may be recurrence as well as increased morbidity and mortality. GS is one such disorder, which needs prompt diagnostic evaluation and treatment.