Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy.

Abstract excerpt

BACKGROUND Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disorder characterized by over-activation and dysregulation of the alternative complement pathway. The clinical presentation of the disease comprises thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. In most cases, aHUS is caused by genetic mutations in components of the alternative complement pathway. The risk of...

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