Table 2.
Summary of patients with A304V MCP mutations
| Patient | Disease | Sex | Age of onset, y | Relapses, no. | Renal sequelae | Inheritance | Complement protein tested* | Other mutations | Source |
|---|---|---|---|---|---|---|---|---|---|
| 5 | aHUS | F | 6 | 4 | proteinuria | Het | FH, FI, CR1 | None | Caprioli et al10 |
| 6 | aHUS | M | 0.9 | Multiple | CRF | Het | C3, C4, CH50, FH, FI | None | C. Belsha, written communication, February 2007 |
| 7 | aHUS/TTP | M | 63 | 2 | None | NA | C3, C4, FH, FI | P553S CFI | T.H.J.G., March 2007 |
| 8 | Stx-HUS | F | 4 | NA | NA | Het | FH, FI, CR1 | None | C.J.F., J.P.A., April 2007 M.N., October 2006 |
| 9 | HELLP | F | 30 | NA | CRF | NA | C3, C4, FB, FH, FI, MCP | None | V.F.B., December 2006 |
| 10 | GN with C3 deposits | M | 22 | NA | proteinuria, hematuria | Het | C3, C4, FB, FH, FI, MCP | Het V181M MCP† | Servais et al23 |
NA indicates not available; Het, heterozygous; GN, glomerulonephritis; and CRF, chronic renal failure.
*
Components listed were measured and were normal; MCP and CR1 were measured by FACS.
†
V181M MCP mutant is normally expressed and has no abnormalities in C3b and C4b binding and cofactor activity (unpublished data).