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 paralysis. 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 syndrome 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/potassium 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 complications. Gitelman syndrome may present in adulthood and should be borne in mind in the diagnosis of hypokalemia.