CFH和CD46联合基因变异致家族性儿童非典型溶血尿毒综合征2例  

Two cases of familial pediatric atypical hemolytic uremic syndrome caused by combined genetic mutations in CFH and CD46

作　　者：李浩淼 韩媛 朱春华[1] 陈秋霞 赵三龙 赵非 丁桂霞[1] Li Haomiao;Han Yuan;Zhu Chunhua;Chen Qiuxia;Zhao Sanlong;Zhao Fei;Ding Guixia(Department of Nephrology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院肾内科,南京210008

出　　处：《中华实用儿科临床杂志》2025年第1期63-67,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(82070688);2019年南京市卫生科技发展专项资金(ZKX19040)。

摘　　要：回顾性分析2018年7月至2023年6月南京医科大学附属儿童医院肾内科收治的2例CFH和CD46联合基因变异致非典型溶血尿毒综合征(aHUS)患儿的临床资料,并采用全外显子测序进行基因检测。例1,男,2岁,腮腺炎后出现皮肤黄染,伴尿色加深。例2,为例1妹妹,7月龄,无明显诱因下出现发热、咳嗽、呕吐及血小板减少。实验室检查显示均存在溶血性贫血、血小板减少、急性肾损伤;基因检测结果示均存在CFH基因(c.3572C>T,p.Ser1191Leu)和CD46基因(c.293C>T,p.Thr98Ile)变异,其母亲为CFH基因杂合变异,父亲为CD46基因杂合变异,父母均为正常表型。目前均接受依库珠单抗定期输注。本研究为我国首次报道CFH和CD46联合基因变异导致的儿童aHUS病例,总结分析了CFH和CD46基因复合单倍体型变异导致的儿童aHUS的临床特征。The clinical data of 2 pediatric patients with atypical hemolytic uremic syndrome(aHUS)who were admitted to the Department of Nephrology at the Children′s Hospital of Nanjing Medical University on July 2018 to June 2023 were retrospectively analyzed.Both patients had combined CFH and CD46 gene mutations.One patient,a 2-year-old boy,presented jaundice and darkened urine following mumps.The other patient,a 7-month-old girl and the younger sister of the boy,developed fever,cough,vomiting,and thrombocytopenia without any apparent cause.Laboratory tests revealed hemolytic anemia,thrombocytopenia,and acute kidney injury in both patients.The genetic test results revealed mutations in both CFH(c.3572C>T,p.Ser1191Leu)and CD46 genes(c.293C>T,p.Thr98Ile)in both patients.The patients′mother is a heterozygous carrier of the CFH gene mutation,while their father is a heterozygous carrier of the CD46 gene mutation.Both parents exhibit normal phenotypes and are currently receiving regular infusions of Eculizumab.The pediatric aHUS caused by combined CFH and CD46 gene mutations is reported in this study for the first time in China.The clinical features of these patients are summarized and analyzed.

关 键 词：儿童 非典型溶血尿毒综合征 CFH基因 CD46基因 

分 类 号：R726.9[医药卫生—儿科]