Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
EA Moulton, D Kavanagh, J Blouin… - Journal of the …, 2006 - journals.lww.com
Hemolytic uremic syndrome (HUS) is characterized by the triad of thrombocytopenia,
microangiopathic hemolytic anemia, and acute renal failure. The non–Shiga toxin–
associated HUS (atypical HUS [aHUS]) has been shown to be a disease of complement
dysregulation. Mutations in the plasma complement regulators factor H and factor I and the
widely expressed membrane cofactor protein (MCP; CD46) have been described recently.
This study looked for MCP mutations in a panel of 120 patients with aHUS. In this cohort …
microangiopathic hemolytic anemia, and acute renal failure. The non–Shiga toxin–
associated HUS (atypical HUS [aHUS]) has been shown to be a disease of complement
dysregulation. Mutations in the plasma complement regulators factor H and factor I and the
widely expressed membrane cofactor protein (MCP; CD46) have been described recently.
This study looked for MCP mutations in a panel of 120 patients with aHUS. In this cohort …