中国儿童非典型溶血尿毒综合征诊治专家共识 (2023版)
血栓性微血管病 (thrombotic microangiopathy，TMA)是一组以微血管性溶血性贫血、血栓性血小板减少以及血管内皮损伤导致的缺血性器官损伤为主要表现的临床病理综合征，其发病的关键环 …
Functional expression of complement factor I following AAV
Mar 10, 2021 · Mutations in Complement C3, Complement Factor I (CFI), Complement Factor H (CFH) and Complement Factor B (CFB) genes strongly correlate with the likelihood of …
CFH and CFHR structural variants in atypical Hemolytic Uremic …
In this study, we report the results of CFH-CFHR Copy Number Variation (CNV) analysis and the characterization of resulting structural variants (SVs) in a large cohort of patients, including …
Complement disorders and hemolytic uremic syndrome - PMC
Decreased C3 levels can be seen in 30–50% of patients with CFH mutations. Autoantibodies to CFH cause a functional deficiency of CFH and reduce binding of CFH to C3b, as seen in …
Atypical hemolytic uremic syndrome in children: complement …
In this study, we found that in 45 children diagnosed with aHUS, genetic disorders in complement-regulating genes encoding CFH, CFI, MCP, CFB, C3, and THBD, as well as the presence of …
Combined Complement Gene Mutations in Atypical Hemolytic …
Feb 2, 2013 · We screened 795 patients with aHUS and identified single mutations in 41% and combined mutations in 3%. Only 8%–10% of patients with mutations in CFH, C3, or CFB had …
Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf
Nov 16, 2007 · Predisposition to aHUS associated with pathogenic variants in C3, CD46, CFB, CFH (including CFH hybrid genes), CFHR5, CFI, THBD, or VTN is typically inherited in an …
CFH-CFHR1 hybrid genes in two cases of atypical hemolytic
Feb 9, 2023 · We identified two aHUS patients with neither anti-complement factor H (CFH) antibodies nor causative variants of seven aHUS-related genes (CFH, CFI, CFB, C3, MCP, …
CFH_CFB基因单核苷酸多态性与中国人老年黄斑变性的相关性研究
Jul 30, 2014 · 结论 通过实验， 我们可证实 CFH 基因中的 rs3753394、rs800292、 rs1061170 和 rs1329428 位点与中国 汉族人的湿性 AMD 有显著的相关性； 而 rs7535263、rs2274700 和 …
非典型溶血性尿毒症综合征的诊疗指南-摘录自《罕见病诊疗指南（…
Oct 9, 2023 · 在已知与 aHUS 相关的补体相关因子基因突变中，以补体因子 H （ complement factor H ， CFH ）基因突变最为常见，占所有突变的 20 ％～ 30 ％；其他常见补体相关因子基 …