Table 2.

Patient characteristics

PatientsGenetic AbnormalitiesCFH 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)39461214671
    Adults (>18 years)266614259
Male/female30/244/67/57/312/64/461/72
Familial/sporadic35/30a4/64/87/6a5/130/821/113
Recurrences28 (55)a1 (10)b6 (12)3 (10)13 (18)a3/836 (129)
Triggering/underlying conditions(41)(8)(11)(5)(15)(7)(104)
    Diarrhea/gastroentheritis62215128
    Upper respiratory tract infections92123414
    Malignancy and cancer chemotherapy1
    Malignant hypertension412
    De novo post-transplant HUS118
    Pregnancy related HUS328
    Systemic disease12
    Glomerulopathy2114
Extrarenal manifestations14 (49)3 (9)1 (11)1 (10)0 (18)1 (7)22 (107)
    Multivisceral involvementc4101006
    Cardiovascular disease only5000002
    Central nervous system only52100114
Biochemical evaluation
    Reduced C3 serum levels (≤83 mg/dl)23 (49)a2 (10)8 (11)a4 (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.