Gitelman综合征的研究进展

Research progress of Gitelman syndrome

Gitelman综合征(GS)是一种相对罕见的常染色体隐性遗传病,主要表达钠钾泵蛋白SLC12A3基因突变后导致编码的蛋白改变而致病,表现为低血钾、代谢碱中毒的症状,其中低血镁和低尿钙最具诊断意义。除了SLC12A3基因的突变,研究还发现CLCNKB基因突变、自身免疫性疾病等都可能导致GS。SLC12A3基因的突变位点及突变类型较多,GS患者在遗传学、临床表现和生化指标等方面具有明显的个体化差异。文章从该病的流行病学、病因学、表现型的影响因素、诊断及治疗等方面进行综述,以期提高对疾病的诊治水平。

Gitelman syndrome(GS)is a relatively rare autosomal recessive inherited disease.It mainly expresses the sodium-potassium pump protein SLC12A3 gene mutation,resulting in the change of encoded protein and causing disease.GS is mainly manifested as symptoms of hypokalemia and metabolic alkalosis,in which hypomagnesaemia and hypocalciuria are the most valuable in diagnosis.In addition to SLC12A3 gene mutation,recent studies have found that CLCNKB gene mutation and autoimmune diseases may lead to GS.There are many mutation sites and types in SLC12A3 gene,which leads to obvious individual differences in genetics,clinical manifestations and biochemical indexes in GS patients.In this paper,we review the epidemiology,etiology,influencing factors of phenotype,diagnosis and treatment of GS,in order to improve the level of diagnosis and treatment of the disease.