Clinical characteristics of patients at time of first episode of CM-TMA
| Baseline characteristics . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . | Patient 5 . | Patient 6 . | Patient 7 . |
|---|---|---|---|---|---|---|---|
| Age, y | 16 | 70 | 40 | 46 | 51 | 35 | 28 |
| Sex | Female | Male | Female | Male | Female | Female | Female |
| Hemoglobin, g/L | 97 | 56 | 67 | 74 | 70 | 68 | 93 |
| Platelet count, × 10⁹/L | 46 | 17 | 63 | 110 | 88 | 29 | 55 |
| LDH, U/L∗ | 1697 | 656 | 1167 | 1444 | 289 | 761 | 905 |
| Serum creatinine, μmol/L | 163 | 583 | 499 | 1358 | 135 | 318 | 201 |
| ADAMTS 13 activity, %† | N/A | 68 | 82 | 45 | 50 | N/A | 86 |
| C3, g/L‡ | 0.84 | 1.2 | 0.84 | 0.9 | 0.67 | 0.13 | 1.15 |
| C4, g/L§ | 0.2 | 0.25 | 0.2 | 0.19 | 0.13 | 0.04 | 0.23 |
| CH50, U/L|| | 50 | NA | >60 | 74 | 58 | <10 | 86 |
| SC5b-9, ng/mL¶ | Elevated | NA | 235 | NA | NA | NA | NA |
| Genetic mutations | Factor H# | C3 | None | None | None | Factor H | None |
| Plasma exchange, n | 9 | 8 | 4 | 4 | 7 | 5 | 0 |
| Time when first course of complement inhibitor started, months after diagnosis | 1 | 4 | <1 | <1 | 9 | 2 | <1 |
| Baseline characteristics . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . | Patient 5 . | Patient 6 . | Patient 7 . |
|---|---|---|---|---|---|---|---|
| Age, y | 16 | 70 | 40 | 46 | 51 | 35 | 28 |
| Sex | Female | Male | Female | Male | Female | Female | Female |
| Hemoglobin, g/L | 97 | 56 | 67 | 74 | 70 | 68 | 93 |
| Platelet count, × 10⁹/L | 46 | 17 | 63 | 110 | 88 | 29 | 55 |
| LDH, U/L∗ | 1697 | 656 | 1167 | 1444 | 289 | 761 | 905 |
| Serum creatinine, μmol/L | 163 | 583 | 499 | 1358 | 135 | 318 | 201 |
| ADAMTS 13 activity, %† | N/A | 68 | 82 | 45 | 50 | N/A | 86 |
| C3, g/L‡ | 0.84 | 1.2 | 0.84 | 0.9 | 0.67 | 0.13 | 1.15 |
| C4, g/L§ | 0.2 | 0.25 | 0.2 | 0.19 | 0.13 | 0.04 | 0.23 |
| CH50, U/L|| | 50 | NA | >60 | 74 | 58 | <10 | 86 |
| SC5b-9, ng/mL¶ | Elevated | NA | 235 | NA | NA | NA | NA |
| Genetic mutations | Factor H# | C3 | None | None | None | Factor H | None |
| Plasma exchange, n | 9 | 8 | 4 | 4 | 7 | 5 | 0 |
| Time when first course of complement inhibitor started, months after diagnosis | 1 | 4 | <1 | <1 | 9 | 2 | <1 |
NA, not available.
Upper limit of normal is 214 U/L.
ADAMTS13 activity of >10% was defined as ruling out TTP (enzyme-linked immunosorbent assay; reference range, 41%-130% [Technozym, Vienna, Austria]).
Lower limit of normal is 0.90 g/L.
Lower limit of normal is 0.10 g/L.
Normal range is 20 to 55 U/L.
Normal range is 58 to 239 ng/mL.
The mutation in question was Y402, which is a variant of uncertain significance.