CFHR家族基因变异致儿童非典型溶血尿毒综合征1例报告并文献复习

doi:10.3969/j.issn.1000-3606.2021.02.004

临床儿科杂志 ›› 2021, Vol. 39 ›› Issue (2): 95-.doi: 10.3969/j.issn.1000-3606.2021.02.004

CFHR家族基因变异致儿童非典型溶血尿毒综合征1例报告并文献复习

崔洁媛, 张东风, 李春珍, 尹美娜, 刘玲

河北省儿童医院肾脏免疫科（河北石家庄 050031）

发布日期:2021-02-07

Childhood atypical hemolytic uremic syndrome caused by CFHR family gene variation: a case report and literature review

CUI Jieyuan, ZHANG Dongfeng, LI Chunzhen, YIN Meina, LIU Ling

Department of Nephrology and Immunology, Children’s Hospital of Heibei Province, Shijiazhuang 050031, Hebei, China

Published:2021-02-07

摘要/Abstract

摘要： 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。

关键词: 儿童；　非典型溶血尿毒综合征； CFHR基因；　复合缺失变异

Abstract: 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.

Key words: child;? atypical hemolytic uremic syndrome;? CFHR gene;? compound deletion mutation

崔洁媛，张东风，李春珍，等. CFHR家族基因变异致儿童非典型溶血尿毒综合征1例报告并文献复习[J]. 临床儿科杂志, 2021, 39(2): 95-.

CUI Jieyuan, ZHANG Dongfeng, LI Chunzhen, et al. Childhood atypical hemolytic uremic syndrome caused by CFHR family gene variation: a case report and literature review[J]. Journal of Clinical Pediatrics, 2021, 39(2): 95-.

CFHR家族基因变异致儿童非典型溶血尿毒综合征1例报告并文献复习

Childhood atypical hemolytic uremic syndrome caused by CFHR family gene variation: a case report and literature review

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