一例青少年Gitelman综合征的诊治及随访分析

Diagnosis, Treatment and Follow-Up Analysis of a Case of Gitelman Syndrome in Adolescents

摘要: 目的：分析Gitelman综合征的临床诊断要点和治疗随访经验，为Gitelman综合征患者的早期诊断、规范治疗提供思路。方法：选取1例因生长迟缓就诊的Gitelman综合征患儿作为研究对象，收集患者的临床资料，通过全外显子组测序筛选候选变异，并进行Sanger测序验证，随访患者的治疗效果。结果：本例13岁患儿因生长迟缓就诊，实验室检查示低钾低镁血症、高肾素、肾性失钾，基因检测发现SLC12A3基因复合杂合变异，确诊为Gitelman综合征，予规范治疗并随访1年2个月，患儿身高、体重明显增长，心电图的ST段压低恢复，生活质量显著改善。其中父源的c.791delinsGCGTGGTCTCGGTCATT GG单条变异为新发现的基因突变位点，丰富了Gitelman综合征的基因突变谱。结论：因生长迟缓就诊的患儿，需重视鉴别诊断，对于低钾血症尤其合并低镁血症、肾性失钾的患儿需警惕Gitelman综合征，及早诊治、规范管理以达最佳预后。

Abstract: Objective: To analyze the clinical diagnostic points, treatment and follow-up experience of Gitelman syndrome, to provide ideas for the early diagnosis, standardized treatment of Gitelman syndrome patients. Methods: A child with Gitelman syndrome who was treated for growth retardation was selected as the study object, and his clinical data was collected. Candidate variant was identified through whole exome sequencing, and Sanger sequencing was used for validation. The therapeutic effect of the patient was followed up. Results: In this case, a 13-year-old patient was treated for growth retardation and laboratory examination showed hypokalemia, hypomagnesemia, hyper-renin and renal potassium loss. Genetic test found compound heterozygous variation of SLC12A3 gene, and the patient was diagnosed with Gitelman syndrome. After receiving standardized treatment and follow-up for 1 year and 2 months, the patient’s height increased significantly, the ST segment depression of the electrocardiogram recovered, and the quality of life improved significantly. The single variant of c.791delinsGCGTGGTCTCGGTCATT GG from the father is a newly discovered gene mutation site, enriching the gene mutation spectrum of Gitelman syndrome. Conclusion: Children with growth retardation should pay attention to differential diagnosis. For children with hypokalemia, especially those with hypomagnesemia and renal potassium loss, it is necessary to be vigilant about Gitelman syndrome, so as to achieve the best prognosis through early diagnosis and treatment and standardized management.