Table 3.
Complement test | aHUS |
Complement protein levels | C3, C4, FB1, C51 |
Complement regulatory protein levels | FH, FI, Properdin1, CD462 |
Complement split products | C3c1, C3d1, Bb1, sC5b-91 |
Complement functional assays | CH50, AH50, hemolytic assays, FH assays1 |
Autoantibodies | Anti-FH |
Genetic screening | CFH, CFI, C3, CD46, CFB Genomic rearrangements across the FH-FHR locus (e.g., by MLPA) Sequencing of coding regions and assessment of CNV Non-complement genetic screening includes THBD and DGKE |
Currently available only at specific laboratories; they are research and not clinically validated assays;
CD46 is also known as MCP. Adapted from: Goodship et al[58]. AH50: Alternative pathway hemolytic assay; C3: Complement component 3; C4: Complement component 4; C5: Complement component 5; CFB: Complement factor B gene; CFH: Complement factor H gene; CFHR: Complement factor H related genes; CFI: Complement factor I gene; CH50: Classical pathway hemolytic assay; CNV: Copy number variation; DGKE gene: Diacylglycerol kinase epsilon gene; FB: Complement factor B; FH: Complement factor H; FI: Complement factor I; MLPA: Multiplex ligation-dependent probe amplification; sC5b-9: Soluble C5b-9; THBD: Thrombomodulin; aHUS: Atypical hemolytic uremic syndrome.