Table 2.
Clinical and biochemical features in patients with aHUS associated with CD46 mutation
| Patient | Age, sex | Features | Hypertension; proteinuria | Hemoglobin (g/dL; platelet/mm3) | Peak creatinine (mg/dL) | Serum C3 (mg/dL)a | FH (mg/dL)b; antibody (AU/mL) | Relapses | eGFR (mL/min/1.73 m2) at follow-up |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 9 years, M | Fever, oliguria | Stage 2; 1+ | 6.1; 670 00 | 5.30 | 131 | 200; 6277 | 1 (after 1 year) | 70 after 1.5 years |
| 2 | 5 years, M | Dengue, melena, high transaminases | Stage 2; 4+ | 6.0; 80 000 | 5.93 | 99 | 124; 62 | None | 100 after 3 months; normal blood pressure |
| 3 | 8 years, F | Pallor, oliguria | NA | NA | NA | NA | 171; <37 | None | 95 after 3 years; normal blood pressure |
| 4 | 6 months, M | Fever, diarrhea, high transaminases | None | 5.7; 59 000 | 3.20 | 96 | 151; <37 | None | 46 after 1 month; normal blood pressure |
| 5 | 6 years, M | Fever | Stage 2; 2+ | 9.9; 300 000 | 4.60 | 180 | 152; <37 | NA | NA |
| 6 | 1.7 years, M | NA | NA | NA | NA | 97 | 162; 85 | 11 (interval 0.5–2 years) | 90 after 14 years |
| 7 | 1.5 years, M | Oliguria, high transaminases | Stage 1; 4+ | 5.5; 21 000 | 0.95 | 57 | 199; 43 | 1 (after 5 years) | 75 after 5 years |
| 8 | 10 months, F | Fever, oliguria, hematuria | Stage 1; 3+ | 4.9; 34 000 | 1.42 | 73 | 200; 57 | NA | NA |
| 9 | 3 years, M | Diarrhea, pallor, oliguria | None, 1+ | 7.3; 161 000 | 4.9 | 45 | 170; 77.4 | 1 (after 6 months) | 95 after 14 months |
| 10 | 15 years, M | Fever, cough, coryza | Stage 1; 2+ | 8.6, 80 000 | 8.3 | 136 | 180; 54.8 | 1 (after 3 years) | 90 after 3 .5 years; normal blood pressure |
Therapy included PD or hemodialysis; Patient 1 also received plasma exchanges and received immunosuppressive agents; Patients 2, 7, and 8 received plasma infusions.
Patients 2 and 3 (previously reported in Bhatia et al. [14]) and 7 and 8 are siblings.
AU/mL, arbitrary units/mL; eGFR, estimated glomerular filtration rate; FH, complement factor H; HD, hemodialysis; F, female; M, male; NA, not available.
a,b
Serum C3 normal range 90–130 mg/dL. b FH normal range 150–320 mg/dL.