Tara Maga - aHUS

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 Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia. aHUS is far less common and more severe than typical HUS, which is caused by E. coli infection and manifests as diarrheal illness. Anecdotally aHUS is a rare disease with an estimate of a total of 600 cases reported in the USA. The pathogenesis of the disease is linked to dysregulation of the alternative pathway of the complement cascade. Mutations in the complement proteins factor H (CFH), membrane cofactor protein (MCP), factor B (CFB), complement C3 (C3) and factor I (CFI) have been implicated in aHUS. These loss or gain of function mutations lead to uncontrolled complement activity and immune-mediated host cell damage.  Since only 50% of aHUS patients have mutations in known disease causing genes, we hypothesize that there are other genes associated with aHUS.  Knowing what mutation a patient has is clinically relevant due to the strong genotype/phenotype between the gene mutated and the severity of the disease.  In our lab we are studying what other genes may contribute to the development of aHUS.