目的 分析CFHR家族基因变异导致的儿童非典型溶血尿毒综合征（aHUS）的临床特征。方法 回顾分析 1例aHUS患儿的临床资料，以及采用二代测序技术进行的相关基因变异分析结果。结果 女性患儿，8岁，呼吸道感染后 出现面色苍黄、肉眼血尿。实验室检查示溶血性贫血、血小板减少、急性肾衰竭、低补体C 3血症、补体C 4无异常；肾脏病 理示血栓性微血管病。符合临床aHUS诊断。基因分析显示患儿CFHR 1、CFHR 3基因纯合缺失变异，CFHR 2杂合缺失变 异（c. 333_ 3del，p.1112 Ffs*18），其母亲及弟弟基因分析结果与患儿相同，其父亲仅为CFHR1和CFHR3基因纯合缺失。 患儿父母非近亲婚配；父母及弟弟的血尿相关筛查结果均无异常。结论 首次报导CFHR1和CFHR3基因纯合缺失变异， 伴CFHR2基因杂合缺失变异导致的儿童aHUS病例。

Objective? To analyze the clinical characteristics of atypical hemolytic uremic syndrome (aHUS) caused by CFHR family gene variation in a child. Methods? The clinical data and the results of related gene mutation analysis by second-generation sequencing technology were retrospectively analyzed in a child with aHUS. Results? The 8 -year-old girl presented with ochriasis and had hematuria after respiratory infection. Laboratory examination showed hemolytic anemia, thrombocytopenia, acute kidney injury and decrease in complement C 3 . No abnormalities were found in complement C 4 . Renal pathology showed thrombotic microangiopathy. The child was clinically diagnosed with aHUS. Gene analysis showed homozygous deletion of CFHR1 and CFHR3 genes and a heterozygous indel mutation (c.333_3del, p.1112Ffs*18 ) in CFHR2 genes. Genetic analysis of the mother and brother revealed the same results as those in the child, and the father only had homozygous deletion of CFHR1 and CFHR3 genes. The parents are not consanguineous. Hematuria related screening results of parents and younger brother were normal. Conclusion? A case of childhood aHUS caused by homozygous deletion of CFHR1 and CFHR3 and a heterozygous deletion of CFHR2 is reported for the first time.