Table 2.

Results of complement components assays in 21 patients with P-aHUS

PatientC3, mg/LC4, mg/LCFB, mg/LCFH, mg/LCFI, mg/LMCP, MFIGenetic AbnormalityFunctional Significant of the Mutation
1220120120250NANACFH (p.H893R; SCR16)Type I mutation (quantitative FH deficiency)
2567233142306761311CFH (p.G397R; SCR7)Type I mutation (quantitative FH deficiency)
3126029329246498NACFH(p.R1210C; SCR 20)Type II mutation, previously reported in aHUS,11 alter the C3b/polyanions-binding site in the C-terminal region41
MCP (p.C35Y)Type I mutation (quantitative MCP deficiency)
489339312463850788CFI (p.G119R; G101R)Undetermined
CFI (p.G424D;G406D)Undetermined
57332489753076996CFH (p.A161S; SCR 03)Type II mutation, previously reported in aHUS,42 may alter the direct binding site to C3b
64633908033278NACFH (p.K584X; SCR10)Type I mutation (quantitative FH deficiency)
734534456326521301CFH (p.G218E; SCR 4)Type I mutation (quantitative FH deficiency)
86373306972475NACFH (p.R341H; SCR6)Type II mutation, may alter the secondary heparin binding site in the SCR6-8 region of FH
C3 (p.R161W)Type II mutation, with is located within or in very close proximity to the FH binding site20
95632108276062NAno
1050916085689651267CFH (p.R53C; SCR 1)Type II mutation, could affect the local conformation of FH
116522077335759987CFH (p.V1197A; SCR20)Type II mutation, previously reported in aHUS,5 alter the C3b/polyanions-binding site in the C-terminal region41
1283334013052551806no
1381417011954677NAC3(p.I1095S)Type II mutation, which is located within or in very close proximity to the FH binding site20
144352946057166NAC3 (p.R161W)Type II mutation, which is located within or in very close proximity to the FH binding site20
1593120115066871NAno
1623913862301551131CFH(p.C431Y; SCR7)Type I mutation (quantitative FH deficiency)
174973265941857921CFH (p.Q81P; SCR1)Type II mutation, may alter the direct binding site to C3b
1869818211649059409MCP (IVS2–2)Type I mutation (quantitative MCP deficiency)35
195802607527067NACFH (p.C864S; SCR14)Type I mutation (quantitative CFH deficiency)
2083622510170441611CFI (p.G119R; G101R)Undetermined
21a5281805945937NACFI (p.G474X)Type I mutation (quantitative FI deficiency)
Normal values660 to 125093 to 38090 to 320338 to 68242 to 78600 to 1400