一例Gitelman综合征合并扁桃体炎的病例报告  

A case report of Gitelman syndrome with tonsillitis

作　　者：张陆燕[1] 郭茜[1] 许衍甲[1] 魏文珍 王玉 ZHANG Luyan;GUO Qian;XU Yanjia;WEI Wenzhen;WANG Yu(Cadre Ward,Department of Endocrinology,People's Hospital of Gansu Province,Gansu Province,Lanzhou730000,China)

机构地区：[1]甘肃省人民医院内分泌科干部病区,甘肃兰州730000

出　　处：《中国当代医药》2023年第14期153-156,共4页China Modern Medicine

基　　金：甘肃省科技计划项目(21JR1RA008)。

摘　　要：Gitelman综合征(GS)是一种失盐性肾小管疾病,呈常染色体隐性遗传,以慢性低钾血症、代谢性碱中毒和继发性醛固酮增多症为主要表现。本研究报道了1例GS患者合并扁桃体炎的诊治过程,同时通过文献复习的方式探讨GS的临床表现、诊断方法、治疗及随访策略,并强调基因检测在本病诊断过程中的重要性。临床医师在工作中应提高对GS的认识水平,做到早期诊断并治疗GS。Gitelman syndrome(GS)is an autosomal recessive salt-wasting renal tubular disease,characterized by hypokalemic alkalosis,hypomagnesemia,hypocalciuria and secondary aldosteronism.This study reported a case of GS patient with tonsillitis,at the same time,explored the clinical manifestations,diagnostic methods,treatment and follow-up strategies of GS,emphasized the importance of genetic testing in the diagnosis of GS.Clinicians should improve their understanding of GS in their work and achieve early diagnosis and treatment of GS.

关 键 词：GITELMAN综合征 低血钾 基因 

分 类 号：R692.6[医药卫生—泌尿科学]