目的 分析激素耐药型肾病综合征（SRNS）的基因变异及临床特点。方法 回顾分析2015年5月至2019年6 月诊断并行全外显子检测（WES）的58例SRNS患儿的临床资料，并比较有或无基因变异患儿之间临床指标、肾脏病理类 型、免疫抑制剂治疗缓解率及肾脏存活时间。结果 58例SRNS患儿中，男35例，女23例，发病年龄1个月~12岁。31例 检测出基因变异，以 WT1、NPHS1为主。31例有基因变异患儿发病初期合并肾功能不全的比例较27例无基因变异患儿明 显升高，差异有统计学意义（P<0.05）。 无基因变异患儿经免疫抑制剂治疗后完全缓解率为73.08%，显著高于有基因变 异患儿（41.18%），差异有统计学意义（P<0.05）。 有基因变异患儿的肾脏生存时间为（39.40±6.95）月，无基因变异患 儿为（58.90±4.87）月，差异有统计学意义（χ2=9.98， P<0.01）。 结论 SRNS患儿行基因检测对于病因诊断、治疗用药、 判断预后、肾移植后的复发预测有显著意义。

Objective? To?explore?the?gene?variation?and?clinical?characteristics?of?steroid?resistant?nephrotic?syndrome? (SRNS).?Methods? The?clinical?data?of?58?children?with?SRNS?diagnosed?by?whole?exon?sequencing?(WES)?from?May? 2015?to?June?2019?were?retrospectively?analyzed,?and?the?clinical?indicators,?renal?pathological?types,?remission?rate?of? immunosuppressive?therapy?and?renal?survival?time?were?compared?between?children?with?or?without?gene?mutation.?Results? In? 58?children?with?SRNS?(35?boys?and?23?girls),?the?age?at?onset?ranged?from?1?month?to?12?years.?Gene?variation?was?detected? in?31?cases,?mainly?WT1?and?NPHS1.?The?incidence?of?renal?insufficiency?in?31?cases?with?gene?mutation?was?significantly? higher?than?that?in?27?cases?without?gene?mutation?(P<0.05).?The?complete?remission?rate?of?children?without?gene?mutation?was? 73.08%,?which?was?significantly?higher?than?that?of?children?with?gene?mutation?(41.18%),?and?the?difference?was?statistically? significant?(P<0.05).?The?kidney?survival?time?of?children?with?genetic?mutation?was?(39.40±6.95)?months,?as?compared? with?(58.90±4.87)?months?in?children?without?genetic?mutation?was,?and?the?difference?was?statistically?significant?(χ2=9.98,? P<0.01).?Conclusion? Gene?detection?is?of?great?significance?in?etiological?diagnosis,?treatment,?prognosis?and?recurrence? prediction?after?renal?transplantation?in?children?with?SRNS.