Atypical hemolytic uremic syndrome: a brief review

• Main Authors: Kuixing Zhang, Yuxin Lu, Kevin T. Harley, Minh-Ha Tran
• Format: Article
• Language: English
• Published: PAGEPress Publications 2017-06-01
• Series: Hematology Reports
• Subjects: Atypical hemolytic uremic syndrome; genetics
• Online Access: http://www.pagepress.org/journals/index.php/hr/article/view/7053

Atypical hemolytic uremic syndrome (aHUS) is a disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The histopathologic lesions of aHUS include thrombotic microangiopathy involving the glomerular capillaries and thrombosis involving arterioles or interlobar arteries. Extra-renal manifestations occur in up to 20% of patients. The majority of aHUS is caused by complement system defects impairing ordinary regulatory mechanisms. Activating events therefore lead to unbridled, ongoing complement activity producing widespread endothelial injury. Pathologic mutations include those resulting in loss-of-function in a complement regulatory gene (<em>CFH, CFI, CD46</em> or <em>THBD</em>) or gain-of-function in an effector gene (<em>CFB</em> or <em>C3</em>). Treatment with the late complement inhibitor, eculizumab – a monoclonal antibody directed against C5 – is effective.