Gitelman综合征1例并文献复习

Gitelman Syndrome: A Case Report and Literature Review

目的:报道1例青春期男性Gitelman综合征(GS)患儿,并结合文献进行复习。以提高国内儿科医生对GS的认识。方法:总结该患儿的临床资料,检测其SLC12A3基因突变情况,并结合文献进行复习。结果:患儿,男,11岁9月,临床表现为肢体麻木、手足搐搦、乏力等,实验室检查发现代谢性碱中毒、低血钾、低血镁、低尿钙等,基因检测发现SLC12A3基因复合杂合突变。对症治疗后症状改善,血钾恢复正常。结论:该病症状隐匿缺乏特异性,SLC12A3等位基因突变有助于确诊,临床上要全面评估,对症治疗。

Objective: To report an adolescent male with Gitelman syndrome (GS), to perform a literature review, and to improve the understanding of this disease among domestic pediatricians. Methods: The clinical information of the patient and the SLC12A3 gene mutation status were summarized, and relevant literature was reviewed. Results: The patient was a boy aged eleven years and nine months old, who had numbness, tetany, fatigue and other clinical manifestations. Laboratory examination prompted metabolic alkalosis, hypokalaemia, hypomagnesaemia and hypocalciuria. Gene detection showed that SLC12A3 gene had compound heterozygous mutation. Symptoms improved after symptomatic treatment, and serum potassium returned to normal. Conclusion: Symptoms of GS are atypical, and SLC12A3 allele mutations help confirm the diagnosis. It is necessary to comprehensively evaluate and treat symptomatically.