CFI gene and atypical hemolytic uremic syndrome / 国际儿科学杂志

ABSTRACT

Mutations in CFI, mapped to 4q25 and encoding complement factor Ⅰ, are responsible for autosomal recessive atypical hemolytic uremic syndrome aHUS). Complement factor Ⅰ, a serine proteinase, plays a key role in inhibition of the amplification loop in alternative pathway. Most of mutations in the CFI gene identified in patients with aHUS are point mutations without large deletion ones. The patients with aHUS with CFI mutations, from 2 months to 32 years of age at disease onset, have a poor outcome. Approximate 70% of the patients have low levels of complement 3, and 69.6% of the cases progress to end-stage renal disease within 3 years. The risk of post-transplantation recurrences in the CFI-mutated patients is high.Therefore,detection of the CFI gene in the patients suffering from aHUS will be beneficial to making therapeutic decisions and predicting prognoses.