Table 1.

Genetic abnormalities in patients with aHUS

Screened SubjectsMutationsCFH Ab (n = 149)Total
CFHa (n = 273)CFI (n = 273)C3 (n = 146)THBD (n = 273)MCP (n = 273)Combined (n = 273)Otherb (n = 48)
Sporadic patients19130 (16%)6 (3%)8 (4%)6 (3%)13 (7%)3 (2%)4 (2%)8 (4%)78 (41%)
Idiopathic14423 (16%)4 (3%)7 (5%)5 (3%)12 (8%)3 (2%)3 (2%)8 (6%)65 (45%)
Secondary:
    Malignancy and chemotherapy1
    Malignant hypertension141 (7%)1 (7%)2 (14%)
    Post-transplant HUSc and calcineurin inhibitors111 (9%)1 (9%)1 (9%)3 (27%)
    Pregnancy-related HUS102 (20%)1 (10%)3 (30%)
    Systemic disease31 (33%)1 (33%)
    Glomerulopathy82 (25%)1 (12%)1 (12%)4 (44%)
Familial patients8235 (43%)4 (5%)4 (5%)7 (9%)5 (6%)6 (7%)0061 (74%)
Overall patients27365 (24%)10 (4%)12 (4%)13 (5%)18 (7%)9 (3%)4 (2%)8 (3%)139 (51%)
  • a Includes two patients with CFH mutations and CFH autoantibodies and patients with the CFH/CFHR-1 hybrid gene (n = 3 of 48 patients screened).

  • b Includes mutations in CFB (n = 1: R183W), C1-inh (n = 2: A2V and K342N), and CFP (n = 1: D299N).

  • c Primary cause of nephropathy was unknown in 6 of 11 patients (1 of which carries a mutation in CFH, 1 in CFI, and 1 in THBD), 2 patients had IgA nephropathy, 1 had diabetic nephropathy, 1 had membranoproliferative glomerulonephritis (MPGN), and 1 had reflux nephropathy.

    Systemic disease: sclerodermia, systemic lupus erythematosus. Glomerulopathy: membranoproliferative glomerulonephritis, nephrotic syndrome, mesangioproliferative glomerulonephritis, membranous glomerulonephritis (see Supplemental Table 2).