Table 3.

Clinical and biochemical data of subgroups of patients with combined mutations from the four cohorts

Clinical ParametersOverall Combined (27)CFH Combined (15)MCP Combined (19)CFI Combined (17)C3 Combined (4)
Disease presentation and outcome
 Children/adults12/157/87/127/103/1
 Males/females15/128/710/99/83/1
 Familial/sporadic14/138/712/78/91/3
 Recurrences: yes/no11/156/99/105/112/1
 Triggering/underlying conditions: yes/no10/69/2a7/42/62/0
 Good/bad outcome of the first episode16/108/712/610/63/1
 Good/bad outcome at 3 yr11/145/99/96/92/2
Biochemical evaluationb,c
 Low/normal C3 levels7/196/83/15d2/14d3/1
 Low/normal C4 levels0/260/140/180/160/4
 Low/normal CFH levels2/232/111/171/140/4
 Low/normal CFI levels6/160/11a5/126/70/3
Effect of plasma treatmentc
 Plasma treated episodes (patients treated with plasma)35 (18)23 (11)20 (14)19 (10)10 (3)
  Remissione/ESRF or death26/916/714/615/48/2
Outcome of kidney transplantationc
 Transplanted kidneys (patients who received at least a kidney graft)14 (10)8 (6)12 (8)9 (7)0 (0)
  Good outcome/graft lost at 3 yrf7/74/46/65/4
  Graft lost for recurrence5343
  • Triggering/underlying conditions including diarrhea, vomiting, gastroentheritis, upper respiratory trait infection, and pregnancy. Good outcome includes complete remission, defined as normalization of both hematologic parameters (Ht>30%, Hb>10 g/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 analyses were performed by chi-squared or Fisher exact test as appropriate.

  • a P<0.03 versus CFI combined.

  • b Normal ranges as reported in Table 2.

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

  • d P<0.05 versus C3 combined.

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

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