Gitelman综合征诊断的研究进展

Research Progress of Diagnosis of Gitelman Syndrome

Gitelman综合征(GS)是一种常染色体隐性遗传性肾小管疾病,其起病隐匿,患者常出现嗜盐、四肢抽搐痉挛、肌肉无力疼痛、多尿等症状。实验室检查结果可见低血钾、低氯性碱中毒、低血镁、低尿钙及肾素-血管紧张素-醛固酮系统异常激活。GS可通过临床表现及实验室检查进行临床诊断,氯离子清除试验可初步鉴别GS和Batter综合征,而基因检测是诊断本病的金标准。未来下一代测序技术在GS中的应用,有望进一步明确GS突变位点的分类和不同种类突变位点相应的表型变化,从而为后续治疗提供帮助。

As an autosomal recessive renal tubular disease,Gitelman syndrome(GS)is recognized late because of its hidden onset.The patients often have symptoms such as halophilic,limb convulsions,muscle weakness and pain,polyuria and so on.The results of laboratory examination are hypokalemia,hypochloremic alkalosis,hypomagnesemia,hypocalcemia and abnormal activation of renin-angiotensin-aldosterone system.GS can be diagnosed by clinical manifestations and the laboratory examination.Chloride scavenging test can initially distinguish GS from Batter syndrome,and gene detection is the gold standard for the diagnosis of this disease.In the future,the application of next-generation sequencing technology in GS is expected to further clarify the classification of GS mutation sites and the corresponding phenotypic changes of different types of mutation sites,thus providing helps to subsequent treatment.