Table 3.
Complement profiles in patients with atypical hemolytic uremic syndrome carrying mutations in diacylglycerol kinase-ε
| Patient | Polymorphisms | Complement Assessmenta | |||||||
|---|---|---|---|---|---|---|---|---|---|
| CFHR3–CFHR1 Deletion | CFH Risk Haplotype | MCP Risk Haplotype | FH: 12–56 mg/dl | C3: 90–200 mg/dl | C4: 16–38 mg/dl | FI: 71%–115% | MCP (PBLs) | Anti-FH | |
| HUS299 | Het | Het | No | 29.7 | 163 | 24.2 | 80 | Normal | Neg |
| HUS39 | No | No | Het | 31 | 124 | 27.4 | 73 | ND | Neg |
| HUS40 | No | Het | No | 35.3 | 87.8 | 21.6 | 83 | ND | Neg |
| HUS272 | Het | No | Hom | 15 | 86.9 | 23.6 | >100 | Normal | Neg |
FH, factor H; C3, complement C3; C4, complement C4; FI, factor I; MCP, membrane cofactor protein; PBLs, peripheral blood lymphocytes; anti-FH, autoantibodies against FH; HUS, hemolytic uremic syndrome; Het, heterozygote; Neg, negative; ND, not done; Hom, homozygote.
a
Complement studies were performed at different times after onset as follows: HUS39, 7 months; HUS40, 6 years; HUS272, 10 weeks; and HUS299, 3 weeks.