Patient mutation status and acute event survival outcomes with eculizumab
| Patient . | Mutation status . | Acute response to eculizumab . | Platelets post-eculizumab, ×109/L . | Survival outcome . |
|---|---|---|---|---|
| 1 | Thrombomodulin (heterozygous) c.127G>A, pAla43Thr; CFH heterozygote chr1:196642980, G>A | Ongoing dialysis | 291 | Living, remains on eculizumab 190 wk |
| 2 | CFH polymorphisms (homozygous) p.val62Ile; p.hist402Tyr | Off dialysis | 320 | Living, remains on eculizumab 139 wk |
| 3 | No mutation identified | Off dialysis | 153 | Living, remains on eculizumab 124 wk |
| 4 | No mutation identified | Ongoing dialysis | 194 | Living, remains on eculizumab 170 wk |
| 5 | Not obtained | Expired | Expired | Expired, due to disseminated fungemia and TMA |
| 6 | CFB C.724A>C, pIle242Lue(homozygous); CFHR5 c.384G>T, p.ser128Ser (heterozygote) polymorphism; CD46 IVS9-78 G>A polymorphism; CFH p.Val62Ile, p.his402Tyr | Non-HD, improvement in renal function | 155 | Living, remains on eculizumab 75 wk |
| 7 | No mutation identified | Non-HD, improvement in renal function | 165 | Living, discontinued eculizumab after 52 wk no evidence of recurrence |
| 8 | Thrombomodulin (heterozygous) C1456G>T p.Asp 488 Tyr; PLG (heterozygote) c.1567C>T p.arg523TRP polymorphism; CFH (heterozygous) p.val62Ile(homozygous) p.His402Tyr | Non-HD improvement in renal function | 205 | Living, discontinuation of eculizumab at 26 wk; recurrent TMA + HD |
| 9 | CFHR1-CFHR3 (homozygous); PLG (heterozygous) c.1335G>C, p.Arg445Ser; MCP/CD46 (heterozygous) IVS9-78G>A | Peritoneal dialysis | 96 | Living, remains on eculizumab 36 wk; discontinued dialysis 36 wk after starting eculizumab |
| 10 | No mutations identified | Off dialysis | 175 | On eculizumab 30 wk, died of heart failure due to cardiomyopathy |
| 11 | Factor I (homozygous) missense c.1217G>A, p.Arg406His; CFHChr1:196620917 C>T exon 18 c2808G>T, p.GLN672GLN exon 13 2016A>Gp.GLN672GLN | Off dialysis | 100 | Living, remains on eculizumab 7 wk |
| Patient . | Mutation status . | Acute response to eculizumab . | Platelets post-eculizumab, ×109/L . | Survival outcome . |
|---|---|---|---|---|
| 1 | Thrombomodulin (heterozygous) c.127G>A, pAla43Thr; CFH heterozygote chr1:196642980, G>A | Ongoing dialysis | 291 | Living, remains on eculizumab 190 wk |
| 2 | CFH polymorphisms (homozygous) p.val62Ile; p.hist402Tyr | Off dialysis | 320 | Living, remains on eculizumab 139 wk |
| 3 | No mutation identified | Off dialysis | 153 | Living, remains on eculizumab 124 wk |
| 4 | No mutation identified | Ongoing dialysis | 194 | Living, remains on eculizumab 170 wk |
| 5 | Not obtained | Expired | Expired | Expired, due to disseminated fungemia and TMA |
| 6 | CFB C.724A>C, pIle242Lue(homozygous); CFHR5 c.384G>T, p.ser128Ser (heterozygote) polymorphism; CD46 IVS9-78 G>A polymorphism; CFH p.Val62Ile, p.his402Tyr | Non-HD, improvement in renal function | 155 | Living, remains on eculizumab 75 wk |
| 7 | No mutation identified | Non-HD, improvement in renal function | 165 | Living, discontinued eculizumab after 52 wk no evidence of recurrence |
| 8 | Thrombomodulin (heterozygous) C1456G>T p.Asp 488 Tyr; PLG (heterozygote) c.1567C>T p.arg523TRP polymorphism; CFH (heterozygous) p.val62Ile(homozygous) p.His402Tyr | Non-HD improvement in renal function | 205 | Living, discontinuation of eculizumab at 26 wk; recurrent TMA + HD |
| 9 | CFHR1-CFHR3 (homozygous); PLG (heterozygous) c.1335G>C, p.Arg445Ser; MCP/CD46 (heterozygous) IVS9-78G>A | Peritoneal dialysis | 96 | Living, remains on eculizumab 36 wk; discontinued dialysis 36 wk after starting eculizumab |
| 10 | No mutations identified | Off dialysis | 175 | On eculizumab 30 wk, died of heart failure due to cardiomyopathy |
| 11 | Factor I (homozygous) missense c.1217G>A, p.Arg406His; CFHChr1:196620917 C>T exon 18 c2808G>T, p.GLN672GLN exon 13 2016A>Gp.GLN672GLN | Off dialysis | 100 | Living, remains on eculizumab 7 wk |
CFB, complement factor B; CFHR1-3, complement factor H–related 1-3; CFI, complement factor I; HD, hemodialysis; MCP, membrane cofactor; PLG, plasminogen; THMB, thrombomodulin.