C3基因突变致成人非典型溶血尿毒综合征1例  

A case of atypical hemolytic uremic syndrome caused by C3 gene mutation in an adult

作　　者：马雪[1] 秦伟[2] 马小俊 Ma Xue;Qin Wei;Ma Xiaojun(Department of nephropathy,The Second Hospital Clinical Medical School,Lanzhou University,Lanzhou 730030,China;Department of nephropathy,West China Hospital,Sichuan University,610041,China;Department of Emergency,People’s Hospital of Linxia State,Linxia 731100,China)

机构地区：[1]兰州大学第二医院肾病科,兰州730030 [2]四川大学华西医院肾病科,成都610041 [3]甘肃省临夏州人民医院急诊科,临夏731100

出　　处：《血栓与止血学》2025年第1期26-30,共5页Chinese Journal of Thrombosis and Hemostasis

摘　　要：回顾性分析1例32岁男性患者C3基因突变所致非典型溶血尿毒综合征。患者食用未清洗草莓后出现腹泻症状,随后出现乏力、纳差、皮肤黄染以及浓茶色尿。入院后完善相关检查提示为非少尿型急性肾衰竭、贫血,血小板减少,总胆红素及间接胆红素、乳酸脱氢酶升高,低补体血症。肾活检病理提示符合血栓性微血管病,全外显子基因检测提示C3基因突变,突变位置为chr19:6690640,予甲泼尼龙、依库珠单抗、血液透析及其他对症支持治疗。现患者血小板及血红蛋白逐渐升高,24 h尿量为1500~2000 mL,现已摆脱血液透析治疗。A 32⁃year⁃old male patient with atypical hemolytic uremic syndrome caused by a C3 gene mutation was retrospectively analyzed.After ate unwashed strawberries,the patient experienced diarrhea,followed by fatigue,poor appetite,jaundice,and dark tea⁃colored urine.After admission,relevant examinations revealed non⁃oliguric acute renal failure,anemia,thrombocytopenia,elevated total bilirubin,indirect bilirubin,lactate dehydrogenase,and hypocomplementemia.Renal biopsy demonstrated thrombotic microangiopathy,and the whole exon gene detection confirmed a C3 gene mutation at chr19:6690640.Methylprednisolone,eculizumab and hemodialysis and other supportive treatment were administered.The patient’s platelet counts and hemoglobin levels were gradually increased while maintaining a 24 h urine output of 1500-2000 mL.Now the patient has discontinued hemodialysis.

关 键 词：非典型溶血尿毒综合征 C3基因 依库珠单抗 

分 类 号：R556.6[医药卫生—血液循环系统疾病]