Gitelman syndrome (GS) is an autosomal recessive,salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC).GS is characterized by hypokalemic metabolic alkalosis,hypomagnesemia and hypocalciuria.GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people.The prevalence of GS is even higher in Asia than other countries.The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood.Common clinical manifestations are associated with electrolyte abnormalities,such as muscle weakness,salt craving and tetany.However,the phenotype of GS is highly variable and links to the quality of life.Diagnosis of GS is based on the clinical symptoms,biochemical abnormalities (normal/low blood pressure,metabolic alkalosis,hypomagnesemia,hypocalciuria and increased activity of renin-angiotensin-aldosterone system) and genetic test.Genetic diag

作者：Gitelman综合征诊治专家共识协作组

来源：中华内科杂志 2017 年 56卷 9期