Table 2

Summary of patients with A304V MCP mutations

PatientDiseaseSexAge of onset, yRelapses, no.Renal sequelaeInheritanceComplement protein tested*Other mutationsSource
5aHUSF64proteinuriaHetFH, FI, CR1NoneCaprioli et al10
6aHUSM0.9MultipleCRFHetC3, C4, CH50, FH, FINoneC. Belsha, written communication, February 2007
7aHUS/TTPM632NoneNAC3, C4, FH, FIP553S CFIT.H.J.G., March 2007
8Stx-HUSF4NANAHetFH, FI, CR1NoneC.J.F., J.P.A., April 2007 M.N., October 2006
9HELLPF30NACRFNAC3, C4, FB, FH, FI, MCPNoneV.F.B., December 2006
10GN with C3 depositsM22NAproteinuria, hematuriaHetC3, C4, FB, FH, FI, MCPHet 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  • V181M MCP mutant is normally expressed and has no abnormalities in C3b and C4b binding and cofactor activity (unpublished data).