Table 4.

Clinical and biochemical data of combined- and single-mutated patients from the four cohorts

Clinical ParametersOverall Combined (27)Overall Single (260)P ValueCFH Combined (15)CFH Single (148)P ValueMCP Combined (19)MCP Single (40)P ValueCFI Combined (17)CFI Single (27)P ValueC3 Combined (4)C3 Single (36)P ValueCFB Combined (1)CFB Single (9)
Disease presentation and outcomea
 Children/adults12/15132/1080.307/876/560.427/1230/100.0057/108/170.543/115/210.310/13/4
 Males/females15/12118/1150.638/766/650.8310/923/170.739/85/120.293/119/170.611/05/4
 Familial/sporadic14/13120/1230.818/776/640.9412/717/230.148/95/200.061/315/140.600/17/2
 Recurrences: yes/no11/1582/1240.816/946/750.889/1023/130.245/114/210.282/19/140.560/10/1
 Triggering/underlying conditions: yes/no10/689/430.699/255/250.507/412/91.002/612/0<0.0012/09/90.480/11/0
 Good/bad outcome of the first episode16/10107/1020.328/752/740.3712/630/60.1810/614/100.793/111/110.600/10/1
 Good/bad outcome at 3 yr11/1473/1100.695/928/740.549/922/50.036/910/130.832/213/171.000/10/1
Effect of plasma treatmenta
 Plasma-treated episodes (patients treated with plasma)35 (18)228 (138)23 (11)152 (89)20 (14)44 (23)19 (10)10 (9)10 (3)21 (16)01 (1)
 Remissionb/ESRF or death26/9152/760.3716/795/570.5114/642/20.00915/43/70.028/212/90.260/1
Outcome of kidney transplantationa
 Transplanted kidneys (patients who received at least a kidney graft with at least 3 yr follow-up)14 (10)77 (60)8 (6)37 (31)12 (8)13 (11)9 (7)11 (7)0 (0)15 (10)01 (1)
  Good outcome/graft lost at 3 yrc7/727/500.294/49/280.206/610/30.165/43/80.365/100/1
  Graft lost for recurrence5283144138041
  • Triggering/underlying conditions including diarrhea, vomiting, gastroenteritis, upper respiratory trait infection, and pregnancy. Good outcome includes complete remission, defined as normalization of both hematologic parameters (Ht>30%, Hb>10g/dl, LDH<460 U/L, platelets>150,000/μl) and renal function (s-creatinine<1.3 mg/dl), and partial remission, defined as normalization of hematologic parameters with renal sequelae (chronic renal failure and/or proteinuria>0.2 g/24 h). Bad outcome includes ESRF and death. Statistical analysis on CFB is not feasible because of the presence of only one CFB combined-mutated patient. Statistical analyses were performed using the chi-squared or Fisher exact test as appropriate.

  • a The number of each cell refer to the number of patients for whom each specific clinical data were available.

  • b Remission includes complete and partial remission as defined above.

  • c Graft lost for disease recurrence, rejection or other causes.