Gitelman Syndrome: An Important Cause of Severe Hypokalemia and Periodic Paralysis

Abstract

Gitelman syndrome is a relatively rare renal tubular disorder. Though it has been reported as a recessively inherited disorder, sporadic cases have also been reported. Traditionally, Gitelman syndrome is considered as benign or mild tubulopathy. We present the case of an 18-year-old male patient with severe hypokalemia and periodic pa-ralysis. Subsequent laboratory investigation revealed renal wasting hypokalemia, metabolic alkalosis, secondary hyperaldosteronism, hypomagnesemia and hypocalciuria, indicating that the patient might have had a renal tubular disorder. The confirmation of Gitelman syn-drome was determined by evaluating tubular function using thiazide and furosemide challenge test. Genetic study was bypassed due to our technical unavaibility. Treament included magnesium aspartate/po-tassium aspartate, potassium chloride tablets and potassium-sparing diuretic. We are presenting our case seeing that Gitelman syndrome is not a syndrome to be overlooked as it bears a risk of severe complica-tions. Gitelman syndrome may present in adulthood and should be borne in mind in the diagnosis of hypokalemia.