Gitelman综合征1例报道并文献复习

Gitelman syndrome:Report of 1 case with literature review

目的:探讨Gitelman综合征(GS)的临床特征,提高临床认识,减少漏诊率。方法:总结分析弋矶山医院收治的1例GS患者临床资料并复习相关文献。结果:该患者低钾血症长期不能找到病因,入院后完善相关检查,明确诊断为GS。结论:目前国内GS检出率低,临床上需仔细鉴别,有条件可行基因检测进行确诊。

Objective:To investigate the clinical characteristics of Gitelman syndrome(GS)for improving clinical understanding and reducing the rate of missed-diagnosis.Methods:The clinical data were obtained and analyzed in one case of GS treated in our hospital,and related literatures were reviewed.Results:The patient was in long-lasting hypokalemia of unknown causes.After admission,he received relevant examinations,and was confirmed as GS.Conclusion:Current GS detection rate remains low in China.This disorder requires meticulous differentiation in diagnosis,and genetic test,if laboratory technology is available.