Table 3.
Identified variations in the CFHR5 gene in patients (n=14) with C3G/IC-MPGN.
| Patients’ ID | Diagnosis based on biopsy | Aminoacid change in FHR-5 | Variations in other genes | CFH Y402H | C3, g/l | C4, g/l | CH50/mL | Alt, % | Factor H, mg/L | sC5b-9, ng/ml | FHR-5, mg/L | Nephrotic syndrome | Renal impairment | Autoantibody |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HUN1502 | IC-MPGN | P46S(27, 33,51) | CD46 T383I(52-54) | het. | 1.28 | 0.19 | 52 | 65 | 546 | 261 | 1.61 | yes | yes | no |
| HUN278 | DDD | V110A (37,55) |
– | het. | 0.87 | 0.26 | 46 | 63 | 676 | 383 | 2.01 | yes | yes | C3NeF |
| HUN523 | IC-MPGN | V110A (37,55) |
CFI R406H(56-59) | het. | 0.93 | 0.3 | 38 | 38 | 165 | 534 | 1.59 | no | no | no |
| HUN746 | IC-MPGN | V110A (37,55) |
CFI R406H(56-59)
C3 D277E |
wt | 0.91 | 0.5 | 69 | 104 | 732 | – | 2.03 | yes | no | no |
| HUN1612 | IC-MPGN | V110A (37,55) |
- | het | 0.45 | 0.1 | 30 | 13 | 413 | 731 | 2.34 | yes | yes | no |
| HUN821 | IC-MPGN | K144N (31,32,37) | C3 c.-2_-1insAC | wt | 0.19 | 0 | 0 | 0 | 538 | – | 1.14 | yes | no | anti-C1q |
| HUN564 | IC-MPGN | p.E163Kfs*10* | CD46 A353V(53,60-63) | wt | 1.02 | 0.3 | 0 | 0 | 217 | 165 | 0.95 | no | yes | anti-FH |
| HUN593 | IC-MPGN | p.E163Rfs*35 (32,36) | - | het | 0.41 | 0.21 | 35 | 16 | 355 | 368 | 1.88 | no | no | anti-FB |
| C208R* | ||||||||||||||
| HUN2446 | C3GN | P46S(27, 33,51) | – | wt | 0.24 | 0.22 | 12 | 1 | 501 | 1777 | 0.47 | no | no | anti-FH, anti-C1q |
| p.E163Rfs*35 (32,36) | ||||||||||||||
| C208R* | ||||||||||||||
| HUN225 | DDD | G278S(37,56,64,65) | - | wt | 0.28 | 0.4 | 47 | 7 | 733 | 770 | 0.86 | yes | no | no |
| HUN769 | IC-MPGN | G278S(37,56,64,65) | – | na | 0.87 | 0.36 | 48 | 104 | 583 | 393 | 1.9 | yes | yes | no |
| HUN1190 | IC-MPGN | G278S(37,56,64,65) | – | het | 0.69 | 0.12 | 34 | 39 | 379 | 561 | 0.62 | yes | yes | no |
| HUN290 | IC-MPGN | R356H (32,66) | CD46 G5D* | wt | 0.87 | 0.26 | 61 | 87 | 341 | 589 | 1.4 | yes | no | C3NeF |
| HUN1325 | C3GN | R356H (32,66) | – | wt | 1.24 | 0.28 | 72 | 73 | 438 | 382 | 1.5 | yes | no | no |
| Total, median (interquartile range) | 0.87 (0.42-0.93- | 0.26 (0.2-0.3) | 42 (31-51) | 39 (9-71) | 470(361-574) | 464(379-625) | 1.55(1-1.9) | - | - | - | ||||
Reference ranges: C3: 0.9-1.8g/L; C4: 0.15-0.55g/L; CH50: 48-103 CH50/ml; AP: 70-105%; sC5b-9: 110–252ng/mL; Factor H: 250-880 mg/L wt: wild-type; het: heterozygous. CFH Y402H is a common risk factor for dense deposit disease.