Wan Peng, Xicui Long, Haoran Lei, Fengxiao Bu, Huijun Yuan, Yu Lu
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引用次数: 0
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.
期刊介绍：
This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of nephrology and dialysis, including genetic susceptibility, clinical presentation, diagnosis, treatment or prevention, toxicities of therapy, critical care, supportive care, quality-of-life and survival issues. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed.
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