Table 1.
Characteristics and clinical data of patients with aHUS
| Patient no. | Diagnosis/ phase | Rare complement gene variants | Variant classification | ExAC global frequency | Gender | Platelets (140-400 000/μL) |
Hb (14-18 g/dL) |
LDH (266-500 IU/L) |
s-Creatinine (0.55-1.25 mg/dL) |
Chronic dialysis treatment |
Plasma sC5b9 (127-400 ng/mL) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 001 | aHUS rem |
CFH – E1172X | P (1) | 0.0000082 | M | 160 000 | 12.5 | 470 | 9.51 | Yes | 476 |
| 002 | aHUS rem |
CFH – S1191L | P (2) | 0.0000082 | F | 328 000 | 11.4 | 453 | 8.11 | Yes | 178 |
| 003 | aHUS rem |
CFHR1/CFHhybrid | P (4) | NA | M | 175 000 | 13.6 | 401 | 6.6 | Yes | 236 |
| 004* | aHUS rem |
CFH – R1210C | P (3) | 0.0001730 | F | 268 000 | 13.4 | 440 | 7.24 | Yes | 233 |
| 005 | aHUS rem |
C3 – K029M | US (5) | 0.0000165 | F | 187 000 | 10.4 | 316 | 11 | Yes | 348 |
| 006 | aHUS rem |
CFI – P50A | P (6) | 0.0001071 | M | 170 000 | 10 | 460 | 6 | Yes | 676 |
| 007* | aHUS rem |
C3 – S1063R | P (5) | 0.0000104 | F | 243 000 | 11.3 | 394 | 1.2 | Yes | 444 |
| 008* | aHUS rem |
No | — | — | F | 246 000 | 12.2 | 420 | 13 | Yes | 295 |
| 009 | aHUS rem |
C3 – T162R | P (5) | NA | F | 301 000 | 11.2 | 410 | 2.96 | No | 1052 |
| 010* | aHUS rem |
CFI– V412M | US (7) | 0.000107 | F | NA | NA | NA | NA | Yes | NA |
| 011* | aHUS rem |
CFH – N516K CFI – T72S |
US (7) US (7) |
0.000405 0.0000008 |
F | 243 000 | 12.3 | NA | 6.2 | Yes | NA |
F, female; Hb, hemoglobin; M, male; NA, not available; P, pathogenic; rem, remission; US, unknown significance.
*
Patients enrolled in the ACCESS study.