Summary

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. He was treated with plasma exchange, intermittent haemodialysis and blood transfusions. At 6-month follow-up his haematological parameters and renal function showed complete resolution, and he experienced no further disease recurrence in the subsequent year.