Two Children Admitted With Hypokalemia: Familial Gitelman Syndrome

Gitelman syndrome (GS) is an autosomal recessive renal tubuler disorder. This syndrome also referred to as familial hypokalemiahypomagnesemia. The prevalence is estimated at approximately 1/40000 and it cannot be diagnosed until adulthood. GS, is caused by inactivating mutations in the thiazide-sensitive sodiumchloride cotransporter in the distal convoluted tubule of kidney and is associated low urinary calcium excretion, hypomagnesemia. Mutations, also lead to disruption NaCl reabsorbsion and hypovolemia. Therefore hypokalemia and metabolic alkalosis occur with activated the renin angiotensin aldosterone system. The most common cause of hypokalemia is renal potassium loss. Herein, we report cases of two (brother) GS, characterized by renal loss of potassium.