A Complement Factor B Mutation in a Chinese Family with Atypical Hemolytic Uremic Syndrome: A Case Report and...

Atypical hemolytic uremic syndrome (aHUS) is a rare and potentially life-threatening condition, often linked to dysregulation of the complement system.

In this study, a novel heterozygous CFB mutation was identified in both the index patient and her sister, who both developed aHUS following respiratory infections. While the index patient succumbed to the condition, her sister achieved remission following treatment with eculizumab. Interestingly, other family members carrying the mutation remained asymptomatic, illustrating intrafamilial variability.

This study provides valuable insights for genetic counseling, prenatal diagnosis, and potential therapeutic strategies for aHUS patients with CFB mutations.