Complement studies of families 1 and 2 and patient 3
F1: I1 | F1: I2 | P1 | F2: I1 | F2: I2 | P2 | P3 | ||
---|---|---|---|---|---|---|---|---|
In1 | In2 | |||||||
Families are indicated by F1 for patient 1 (P1) and F2 for patient 2 (P2). Two results are given for patient 1 corresponding to investigations 3 months after disease onset (In1) and at the time of end stage renal disease (In2). Plasma concentrations of factor B, C3, and C4 antigens were measured by nephelometry (Dade Behring, Paris La Defense, France). Plasma concentrations of factor I were determined by ELISA using an anti-factor I polyclonal antibody (Calbiochem, Meudon, France). | ||||||||
CH50 (70–130%) | 115 | 96 | 89 | 111 | 100 | 78 | 87 | 75 |
C3 (660–1250 mg/l) | 876 | 1230 | 601 | 716 | 1060 | 456 | 624 | 990 |
Factor B (90–320 mg/l) | 147 | 177 | 55 | 107 | 153 | 61 | 76 | 123 |
C4 (93–320 mg/l) | 198 | 84 | 186 | 311 | 145 | 140 | 154 | 256 |
H ag (70–130%) | 111 | 115 | 76 | 102 | 136 | 85 | 126 | 107 |
Factor I ag (70–130%) | 40 | 120 | 40 | 48 | 133 | 80 | 109 | 36 |
FH gene | No mutation | No mutation | No mutation | |||||
FI gene | G456X | G456 | G456X | D506 | D506V | D506V | W528X |