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. 2016 Aug 31;2(1):66–75. doi: 10.1016/j.ekir.2016.08.015

Table 1.

Summary of diagnostic work-up and treatment of patients with aHUS whose serum was used for neutrophil adhesion studies

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.