摘要目的:观察依库珠单抗在非典型溶血尿毒综合征患儿中的疗效。方法:该研究为单中心观察性研究。回顾性收集2023年1月至2024年5月华中科技大学同济医学院附属武汉儿童医院诊断为非典型溶血尿毒综合征并使用依库珠单抗治疗患儿的临床资料。根据患儿体重按照常规剂量使用依库珠单抗，分析依库珠单抗治疗后患儿无事件（无死亡或终末期肾病）生存率、血栓性微血管病完全缓解率和复发率。观察血红蛋白、血小板、乳酸脱氢酶及估算肾小球滤过率恢复正常时间，尿常规变化以及不良反应。采用全外显子组测序对患儿及其父母血液样本进行基因检测。结果:该研究纳入4例患儿，均为汉族人，男3例，女1例，发病中位年龄为8岁（范围：7～10岁）。4例患儿中，2例患儿合并补体基因异常，均为补体因子H相关蛋白1 、补体因子H相关蛋白3基因纯合缺失。4例患儿在使用依库珠单抗后均摆脱血浆置换或输注，半年无事件生存率及血栓性微血管病完全缓解率均为4/4，完全缓解时间为19（14～28）d；4例患儿血小板、乳酸脱氢酶、估算肾小球滤过率、血红蛋白恢复正常时间分别为4（1～5）d、19（14～28）d、10（5～14）d、29（20～42）d；除1例患儿尿常规波动于阴性至弱阳性之间，其余3例患儿尿常规均正常。4例患儿均已停药，其中2例基因检测阴性患儿使用7剂依库珠单抗后停药，停药后随访1年无复发；2例基因检测异常患儿使用依库珠单抗治疗26周后停药，随访3个月内未见复发。一例患儿在使用第3剂依库珠单抗后间隔7 d左右出现皮疹，给予抗过敏处理后皮疹缓解，后续使用依库珠单抗无复发。 结论:依库珠单抗治疗非典型溶血尿毒综合征患儿有效且安全。无基因突变患儿病情稳定后可考虑停药，但停药后需严密监测及随访。

abstractsObjective:To observe the efficacy of eculizumab in children with atypical hemolytic uremic syndrome.Methods:It was a single-center observational study. The clinical data of children diagnosed with atypical hemolytic uremic syndrome and treated with eculizumab in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2023 to May 2024 were retrospectively collected. Eculizumab was used at the conventional dose based on the children 's weight. Event-free survival (no death or end-stage renal disease) rate, complete remission rate and recurrence rate of thrombotic microangiopathy in children with atypical hemolytic uremic syndrome after eculizumab treatment were analyzed. The complete remission time of estimated glomerular filtration rate, hemoglobin, platelet, lactic dehydrogenase, urine routine and the adverse reactions during the treatment were observed. Whole exome sequencing was used to conduct genetic testing based on blood samples of the children and their parents.Results:There were 4 children enrolled in the study. Four children were all Han Chinese, including 3 males and 1 female. The median age of onset was 8 years (ranging from 7 to 10 years). Two patients had complement gene abnormalities, both of which were homozygous deletions of complement factor H-related 1 and complement factor H-related 3. All the patients were free of plasma exchange or perfusion after treatment with eculizumab, and the 6-month event-free survival rate and thrombotic microangiopathy complete remission rate were both 4/4. The complete remission time was 19 (14-28) days. The time for the complete recovery of platelets, lactate dehydrogenase, estimated glomerular filtration rate and hemoglobin in 4 children was 4 (1-5), 19 (14-28), 10 (5-14) and 29 (20-42) days, respectively. Except for 1 patient whose urine routine fluctuated between negative and weakly positive expression, the other 3 patients had normal urine routine. All the patients discontinued eculizumab. Two patients without gene mutations discontinued eculizumab after 7 doses, and there was no recurrence during the 1-year follow-up after drug withdrawal. Two patients with genetic abnormalities discontinued eculizumab after 26 weeks of treatment, and no recurrence was found during the 3-month follow-up after drug withdrawal. One patient developed rash approximately 7 days after receiving the third dose of eculizumab. The rash was relieved after anti-allergic treatment, and there was no recurrence after the continued use of eculizumab.Conclusion:Eculizumab is effective and safe in the treatment of children with atypical hemolytic uremic syndrome. Discontinuation of eculizumab can be considered in patients without gene mutations when their condition is stable, but close monitoring and follow-up are needed after drug withdrawal.