目的 探讨儿童终末期肾病（ESRD）的临床特征与基因变异特点。方法 回顾性分析1例ESRD患儿的临床 资料及全外显子基因测序结果，并复习相关文献。结果 患儿，女，9岁，确诊原发性肾病综合征，糖皮质激素及免疫抑 制剂治疗效果差，肾功能快速恶化，病程2月余行替代治疗，规律透析期间出现心力衰竭和癫痫发作。全外显子基因测 序发现患儿TRPC 6基因存在错义变异c. 395 T>C（p.Met 132 Thr）；Sanger测序验证显示父母均为野生型，属于新发变异。 结论 TRPC6基因变异是该患儿进展至ESRD伴肾外表现的原因，该变异位点的致病性国外已有文献报道，国内未见报道。

Objective To explore the clinical characteristics and gene variation of end-stage renal disease (ESRD) in children. Methods Clinical data and whole exon gene sequencing results of one child with ESRD were analyzed retrospectively, and relevant literature was reviewed. Results? A 9 -year-old girl diagnosed with primary nephrotic syndrome, and the effect of treatment with glucocorticoid and immunosuppressive was poor. The renal function deteriorated rapidly, and the children were given alternative therapy after the course of 2 months. Heart failure and seizures occurred during regular hemodialysis. Whole exon gene sequencing revealed a missense variation of c. 395 T>C (p.Met 132 Thr) in TRPC 6 gene. Sanger sequencing verified that both parents were wild-type, and the variation was novel. Conclusion The variation of TRPC6 gene was the reason for the progression to ESRD with extrarenal manifestations. The pathogenicity of this variation site has been reported in foreign literature but not in China.