Table II.

Clinical information on the aHUS patients carrying p.Arg240His

Patient IDSexAge at PresentationRenal FunctionCFH, MCP, CFI, C3, and FB MutationsCFHR1 and CFHR3 Copy NumberC3 (g/L)C4 (g/L)FH (g/L)FI (mg/L)C4BP (mg/L)
1M8RecoveredMCP p.Ser206Pro CFH, CFI, FB, C3 - nil11.400.240.6870235 ± 27
2M16RecoveredMCP p.Ser206Pro CFH, CFI, FB, C3 - nil10.980.31n/an/a64 ± 9
265 ± 47
3F6RecoveredCFH– p.Gln950His MCP, CFI, FB, C3 - nil10.820.190.4961202 ± 42
4M8RecoveredNil21.310.410.70n/an/a
5F23RecoveredNil21.650.280.5847286 ± 40
6F61RecoveredNil11.120.180.7066213 ± 29
  • a Samples were taken for analysis upon first arrival to the hospital. C4BP concentration was measured using ELISA (42 ), C3 and C4 by rate nephelometry (Beckman Array 360), and FH and FI by radioimmunodiffusion (Binding Site). Patient 2 had low C4BP level at first analysis upon arrival to hospital but subsequent sample revealed normal level of C4BP. Normal range of concentrations: C3 0.68–1.80 g/L, C4 0.18–0.60 g/L, FH 0.35–0.59 g/L, FI 38–58 (mg/L), and C4BP 114–345 (mg/L). CFH (6 ), MCP (6 ), CFI (9 ), C3 (11 ), and FB (10 ) genes were sequenced as described previously. n/a: Not available.