What are the genetic mutations of aHUS?
Hereditary aHUS is caused by loss of function mutations in regulatory genes, such as complement factor H (CFH), complement factor I (CFI), thrombomodulin (THBD), membrane cofactor protein (MCP), as well as gain-of-function mutations in effector genes complement factor B (CFB) and C3. CFH mutations are the most prevalent. Currently, more than 30 mutations have been described.
Autoantibodies to CFH can result in a functional deficiency of CFH. These autoantibodies reduce CFH binding to C3b, leading to a decrease in C3b activation. CFH antibodies account for approximately 10% of atypical HUS. Autoantibodies are mostly seen in children with aHUS.
