Table 4.
Genotype-phenotype correlations in atypical hemolytic uremic syndrome (data refer to the period before introduction of eculizumab)
| Gene | Risk of death or ESRD at onset or first yr | Risk of recurrence | Risk of death or ESRD after 3-5 yr | Risk of recurrence in allograft |
| CFH or CFH-CFHR1/3 hybrid genes | 50%-70% | 50% | 75% | 75%-90% |
| CFI | 50% | 10%-30% | 50%-60% | 45%-80% |
| MCP single | 0%-6% | 70%-90% | 6%-38% | < 20% |
| MCP combined1 | 30%-40% | 50% | 50% | 50%-60% |
| C3 | 60% | 50% | 75% | 40%-70% |
| CFB | 50% | 100% | 75% | 100% |
| THBD | 50% | 30% | 54% | ? |
| Anti-FH | 30%-40% | 40%-60% | 35%-60% | Depends on antibody titers |
1
Combined with CFH or CFI or C3 mutations. Adapted from: Goodship et al[58]. CFB: Complement factor B gene; CFH: Complement factor H gene; CFHR: Complement factor H-related genes; CFI: Complement factor I gene; FH: Factor H protein; THBD: Thrombomodulin gene.