Table 1.
Patient no. | Genetics | CFH Abs | Treatment |
---|---|---|---|
1 | Not tested | Positive | None |
2 | CFH—heterozygous variant of unknown significance (c.3644G>A [p.Arg1215Gln]) |
Negative | Plasma infusion |
3 | CFH—heterozygous disease causing mutation (c.3148A>T [p.Asn1050Tyr]) CFHR-3/CFHR-1—homozygous deletion |
Positive | Plasma infusion |
4 | CFHR-3/CFHR-1—homozygous deletion | Positive | Eculizumab |
5 | C3—homozygous variant of unknown significance (c.304C>G [p.Arg102Gly]) | Negative | Eculizumab |
Eculizumab treatment followed a weight- and/or age-based standard protocol.
aHUS, atypical hemolytic uremic syndrome; CFH Abs, CFH autoantibodies; DEAP HUS, deficiency of complement factor H-related (CFHR) proteins and CFH autoantibody-positive hemolytic uremic syndrome.