Mutations in proteins that regulate complement (factor H, factor I, MCP/CD46, thrombomodulin) or promote (C3, factor B) amplification of its alternative pathway or anti-factor H antibodies predispose to aHUS.
We describe a case of a 22-year-old man who presented with clinical features of atypical haemolytic uraemic syndrome and in whom genetic analysis of complement regulatory proteins demonstrated a CD46 mutation.
We presented the second reported case of aHUS associated with a heterozygous c.191G > T mutation in exon 2 of MCP who responded rapidly to plasma exchange.
Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease.
We present a case of chronic thrombotic microangiopathy (TMA) after kidney transplantation in a recipient who had been classified as hypertensive ESRD and found to have a genetic defect in CD46, a transmembrane protein that regulates complement activation, indicating atypical hemolytic uremic syndrome (HUS).