The “Consensus of Experts on the Diagnosis and Treatment of Gitelman Syndrome” in China recommends that when patients have characteristic clinical manifestations and laboratory tests, a family investigation should be conducted, and genetic testing is recommended to obtain a diagnosis.[14] The patient had hypokalemic alkalosis, low blood magnesium, high renin, low blood chlorine, low urinary calcium, and increased urinary potassium excretion, and their sister also had hypokalemia, which supports the diagnosis of GS and was confirmed through genetic testing in the present study. This evidence concerns the gene REN and Gerstmann syndrome.