Table 1. Comparison of genetic or acquired abnormalities among Western countries and Japan.
| Frequency | ||||
|---|---|---|---|---|
| Genetic or acquired | Noris et al | Maga et al | Fremeaux-Bacchi et al | Yoshida et al |
| abnormalities | (n = 273) | (n = 144) | (n = 214) | (n = 45) |
| Italy | USA | France | Japan | |
| CFH | 24% | 27% | 28% | 7% |
| anti-CFH Ab | 3% | ND | 7% | 13% |
| C3 | 4% | 2% | 8% | 42% |
| MCP | 7% | 5% | 9% | 5% |
| THBD | 5% | 3% | 0% | 7% |
| CFB | 0.4% (n = 1) | 4% | 2% | 2% |
| CFI | 4% | 8% | 8% | 0% |
| unidentified | ~30% | 54% | 34% | 24% |
The frequency of each genetic or acquired abnormality in our aHUS cohort in Japan was compared to that in three other cohorts (Italy [32], USA [33], France [34]). The data reported by Noris et al. included 47 secondary aHUS patients. Sixty-percent of aHUS patients in our cohort were enrolled from West Japan. In the data of Japan, both predisposing and potentially predisposing mutations were counted. Although two patients (2V1 and H2) had two predisposing mutations (C3-p.I1157T and THBD-p.D486Y), they were counted as C3 group.
CFH: complement factor H, Ab: antibody, C3: complement component C3, MCP: membrane cofactor protein, THBD: thrombomodulin, CFB: complement factor B, CFI: complement factor I, ND: no data