难治性Gitelman综合征1例及临床诊疗体会

Experience in clinical diagnosis and treatment of refractory Gitelman syndrome: a case report

目的分析1例难治性Gitelman综合征的临床特点并总结其诊疗体会。方法以1例Gitelman综合征患者为研究对象,完善相关检验检查以及肾脏病理、SLC12A3基因分析。结果该患者青年起病,临床表现为反复心悸、发作性四肢抽搐、乏力,检查提示低钾、低镁、代谢性碱中毒,肾穿病理提示肾小球旁器增生,基因分析提示SLC12A3的复合杂合突变。治疗上予补钾、补镁及保钾,病情可缓解但易反复。结论本例患者低钾更难纠正,极易复发,临床症状明显,值得长期关注。

Objective To analyze the clinical characteristics of refractory Gitelman syndrome and summarize the experience in diagnosis and treatment. Methods A cases of Gitelman syndrome was studied. The relevant examinations, kidney pathology and SLC12A3 gene analysis were completed. Results The patient got the disease when he was young. The clinical manifestations included recurrent heart palpitations, seizures, limb convulsions and fatigue. Laboratory examinations revealed low potassium, low magnesium and metabolic alkalosis. Renal pathology showed juxtaglomerular hyperplasia. Gene analysis revealed compound heterozygous mutation of SLC12A3 gene.After supplement of potassium and magnesium, the condition was alleviated but easy to relapse. Conclusions Hypokalemia of the patients was difficult to correct and easy to relapse. The patient had obvious clinical symptoms,and was worthy of long-term attention.