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. 2012 Jul;60(1):121–125. doi: 10.1053/j.ajkd.2012.02.329

Table 1.

Complement Profile

Pedigree No.
Reference Range
I-2 II-1 II-2 II-4 II-3a
CFHR5 sequence variant Yesb Yesb No No Yesb
C3 (g/L) 1.43 1.03 1.08 1.14 0.07 0.7-1.7
C4 (g/L) 0.24 0.17 0.21 0.16 0.22 0.16-0.54
CFH (%)c 181 132 132 147 148
CFI (%)c 174 132 157 186 154
Total complement hemolytic activity (%)d 108 47 99 95 ND 50-150
Alternative pathway hemolytic activity (%)d 92 53 102 95 ND 50-150
Serum CFHR5
 Absolute amount (μg/mL) 5.3 3.8 4.0 NA 2.1 3.4-10.1
 Relative amount (%)e 96.2 69.9 72.5 NA 37.3

Abbreviations: CFH, complement factor H; CFHR5, complement factor H-related protein 5; CFI, complement factor I; NA, not available (insufficient sample); ND, not detectable.

a

Index patient.

b

c.485dupA (p.Glu163Argfs*34); numbering and nomenclature follows Human Genome Variation Society recommendations (for cDNA, A in ATG start codon is position 1; for protein, the methionine encoded by the start codon is position 1).

c

No validated reference range exists for CFH and CFI, so results are expressed as percentage of the level in pooled serum from apparently healthy controls.

d

Percentage of the activity in pooled serum from apparently healthy controls.

e

Compared with the median value in 13 apparently healthy controls, which was 5.5 μg/mL (Fig 1D).