H因子正常非典型溶血尿毒综合征2例报告及文献复习

Two case reports of atypical-HUS with normal level of complement factor H and literature review of atypical-HUS

目的探讨儿童非典型溶血尿毒综合征(aHUS)的诊断和治疗措施。方法对2007年6月1日和2007年11月1日韩国首尔国立大学儿童医院收治的2例H因子正常aHUS患儿临床资料、实验室检查和诊疗过程进行分析总结,并复习相关文献。结果2例患儿以血小板减少、溶血性贫血和急性肾功能衰竭为主要表现,无腹泻前驱病史。血补体H因子(CFH)定量正常。未发现CFH基因突变。给予血液透析、血浆置换、输注冰冻血浆及血小板,病情缓解。结论aHUS病因复杂,CFH基因突变或抗CFH自身抗体的存在都能够抑制CFH的功能引起aHUS。膜共同因子蛋白(MCP)、I因子(FI)、B因子(FB)和补体C3等基因突变也可引起aHUS。

Objective To explore the diagnosis and treatment of atypical haemolytic uraemic syndrome （aHUS） in children. Methods Analyze the two eases＇ clinical data, laboratry findings and the process of diagnosis and treatment and review the related literature. Results The two cases mainly presented with thrombocytopenia, hemolytic anemia and acute renal failure with no diarrhea.The level of serum complement factor H （CFH） was normal.CFH gene mutation of the two cases was not found.Hemolysis, plasma exchange, frozen plasma and platelet infusion were given and the patients improved. Conclusion The etiology of aHUS is complicated.CFH is a regulator of complement system.CFH gene mutation and CFH autoantibodies can cause aHUS.However, other complement regulatory genes, such as membrane cofaetor protein （MCP）, factor I （FI）, factor B （FB） and C3 are also related to aHUS.More attention should be paid to etiology, pathogenesis, diagnosis and treatments of aHUS.