非典型溶血尿毒综合征
替代补体途径
补体因子B
免疫学
系数H
补体系统
微血管病性溶血性贫血
抗体
医学
补体因子I
经典补体途径
补体成分3
CD46型
伊库利珠单抗
错义突变
溶血性贫血
补体缺乏
突变
生物
基因
血栓性血小板减少性紫癜
遗传学
血小板
作者
Sonoko Minato,Hiroyuki Iijima,Hiro Nakao,Kentaro Nishi,Yoshihiko Hidaka,Norimitsu Inoue,M. Kubota,Akira Ishiguro
标识
DOI:10.1080/25785826.2021.1905303
摘要
Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by overactivation of the complement alternative pathway. aHUS involves the presence of antibodies against complement factor H and its mutations in the complement genes. A 2-month-old boy presented with discoid rash, hemolytic anemia, thrombocytopenia, multiple antibodies, and hypocomplementemia with a very low level of C4 (< 3 mg/dL), indicating activation of the complement pathway, together fulfilling the systemic lupus erythematosus (SLE) criteria of the American College of Rheumatology at 5 months of age. However, most of these findings normalized spontaneously without any intervention. Further investigations revealed a high level of anti-complement factor H antibodies and a novel heterozygous missense mutation (p.Glu1172Ala, located in exon 22) in a complement gene, CFH. At 2 years of age, his SLE-like symptoms have not recurred, but hematuria and schistocytes were persistent. Eventually, aHUS was diagnosed rather than SLE. Our findings suggest that multiple antibody complex, including anti-complement factor H antibody, may temporarily activate the classical pathway, resulting in SLE-like findings.
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