Pathophysiology of aHUS
Genetic and acquired abnormalities of the alternative pathway have been reported in approximately half of patients with aHUS. They result in loss of complement regulation, often at the host cell surface. Screening for genetic and acquired abnormalities of the alternative pathway is recommended in patients presenting with a potential diagnosis of aHUS.
Identification of a complement abnormality aids diagnosis and allows stratification of patient risk of progression to ESRD and recurrent disease following renal transplantation. Furthermore, confirmation of a complement abnormality can also prompt testing of family members and in the assessment of potential living donors.