Work

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

Year: 2025

Type: review

Abstract: Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare and potentially life-threatening condition, often linked to dysregulation of the complement system. Case Presentation: 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. Conclusion: This study provides valuable insights for genetic counseling, prenatal diagnosis, and potential therapeutic strategies for aHUS patients with CFB mutations.

Source: Case Reports in Nephrology and Dialysis

DOI: 10.1159/000547975

Authors: Wan Peng, Xicui Long, Haoran Lei, Fengxiao Bu, Huijun Yuan, Yu Lu

Institutions: West China Medical Center of Sichuan University, West China Hospital of Sichuan University, Chengdu University of Traditional Chinese Medicine

Language: English

Topic: Complement system in diseases

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,030