Table 2.
Patient characteristics
| Patients | Genetic Abnormalities |
CFH Ab (n = 8) | None (n = 134) | ||||
|---|---|---|---|---|---|---|---|
| CFH (n = 65) | CFI (n = 10) | C3 (n = 12) | THBD (n = 13) | MCP (n = 18) | |||
| Disease onset | (65) | (10) | (12) | (13) | (18) | (8) | (130) |
| Children (≤18 years) | 39 | 4 | 6 | 12 | 14 | 6 | 71 |
| Adults (>18 years) | 26 | 6 | 6 | 1 | 4 | 2 | 59 |
| Male/female | 30/24 | 4/6 | 7/5 | 7/3 | 12/6 | 4/4 | 61/72 |
| Familial/sporadic | 35/30a | 4/6 | 4/8 | 7/6a | 5/13 | 0/8 | 21/113 |
| Recurrences | 28 (55)a | 1 (10)b | 6 (12) | 3 (10) | 13 (18)a | 3/8 | 36 (129) |
| Triggering/underlying conditions | (41) | (8) | (11) | (5) | (15) | (7) | (104) |
| Diarrhea/gastroentheritis | 6 | 2 | 2 | 1 | 5 | 1 | 28 |
| Upper respiratory tract infections | 9 | 2 | 1 | 2 | 3 | 4 | 14 |
| Malignancy and cancer chemotherapy | — | — | — | — | — | — | 1 |
| Malignant hypertension | 4 | — | — | — | — | — | 12 |
| De novo post-transplant HUS | 1 | 1 | — | — | — | — | 8 |
| Pregnancy related HUS | 3 | 2 | — | — | — | — | 8 |
| Systemic disease | 1 | — | — | — | — | — | 2 |
| Glomerulopathy | 2 | 1 | 1 | — | — | — | 4 |
| Extrarenal manifestations | 14 (49) | 3 (9) | 1 (11) | 1 (10) | 0 (18) | 1 (7) | 22 (107) |
| Multivisceral involvementc | 4 | 1 | 0 | 1 | 0 | 0 | 6 |
| Cardiovascular disease only | 5 | 0 | 0 | 0 | 0 | 0 | 2 |
| Central nervous system only | 5 | 2 | 1 | 0 | 0 | 1 | 14 |
| Biochemical evaluation | |||||||
| Reduced C3 serum levels (≤83 mg/dl) | 23 (49)a | 2 (10) | 8 (11)a | 4 (8) | 4 (15) | 3 (7) | 22 (103) |
| Reduced C4 serum levels C4 (≤15 mg/dl) | 2 (48) | 0 (10) | 2 (10) | 1 (7) | 1 (15) | 1 (7) | 6 (103) |
| Reduced CFH serum levels (≤350 mg/L) | 6 (46) | 0 (10) | 0 (9) | 0 (6) | 0 (15) | 2 (7) | 2 (104) |
The number of patients for whom data are available are reported between brackets. CFH group includes also patients with CFH-CFHR1 hybrid gene (all familial cases) and two patients with CFH mutations and CFH autoantibodies. In this and all the subsequent tables, we included in the analysis also deceased affected relatives of index cases within families.
a
P < 0.0024 after Bonferroni correction compared with the “none” group.
b
P < 0.0024 after Bonferroni correction compared with the MCP group.
c
Cerebral, cardiac, pulmonary, and pancreatic.