Table 3.

Complement profiles in patients with atypical hemolytic uremic syndrome carrying mutations in diacylglycerol kinase-ε

PatientPolymorphismsComplement Assessmenta
CFHR3–CFHR1 DeletionCFH Risk HaplotypeMCP Risk HaplotypeFH: 12–56 mg/dlC3: 90–200 mg/dlC4: 16–38 mg/dlFI: 71%–115%MCP (PBLs)Anti-FH
HUS299HetHetNo29.716324.280NormalNeg
HUS39NoNoHet3112427.473NDNeg
HUS40NoHetNo35.387.821.683NDNeg
HUS272HetNoHom1586.923.6>100NormalNeg
  • 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.