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，其发病的关键环节为内皮细胞损伤引发微血栓形成 [1, 2]。 TMA存在一系列不同的病因，所造成的病变范围、临床表现、诊断治疗以及预后有较大差异。 由于肾小球内皮细胞容易发生损伤，肾脏是TMA最常受累的器官。 TMA的发病取决于患者自身的先天遗传因素和所处环境的触发因素之间的相互作用。 触发 …

2021年3月10日 · Mutations in Complement C3, Complement Factor I (CFI), Complement Factor H (CFH) and Complement Factor B (CFB) genes strongly correlate with the likelihood of developing AMD, with CFI...

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 258 patients with primary aHUS and 92 with secondary forms.

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 6%–10% of children with aHUS [15,16].

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 αFH with or without a homozygous deletion in CFHR1/3, are linked with clinical presentation, treatment, and outcome. In almost 50% of this pediatric aHUS cohort ...

2013年2月2日 · 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 combined mutations, whereas approximately 25% of patients with mutations in MCP or CFI had combined mutations.

2007年11月16日 · 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 autosomal dominant manner with reduced penetrance. Atypical HUS associated with pathogenic variants in DGKE is typically inherited in an autosomal recessive manner.

2023年2月9日 · 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, THBD, and DGKE); however,...

2014年7月30日 · 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 rs1410996 这 3 个 SNP 在中国汉族人中未能发现其与湿性 AMD 有相关； 同时 CFB 基因与中国人 AMD 的发生无关。 干性 AMD 与 CFH、 CFB 基因单核苷酸多态性无关。

2023年10月9日 · 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因突变，包括 CD46 、补体因子 I （ complement factor I ， CFI ）、补体因子 3 （ complement factor 3 ， C3 ...