关键词: 激素耐药型肾病综合征； 基因检测； 儿童

Abstract: 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.

Key words: steriod resistant nephrotic syndrome; genetic testing; child