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Atypical Hemolytic Uremic Syndrome: Atypical Course and Atypical Mutations Combination

Journal: Open Access Journal of Urology & Nephrology (Vol.2, No. 1)

Publication Date:

Authors : ; ;

Page : 1-5

Keywords : Atypical hemolytic uremic syndrome; Complement C3 mutation; Complement factor H; Eculizumab; Membrane cofactor protein;

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Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy, associated with dysregulation of the alternative pathway of the complement system, characterized by hemolytic anemia, thrombocytopenia, and acute renal failure. In this report, we discuss the case of a woman with aHUS that carries heterozygous C3, complement factor H and membrane cofactor protein mutations, with an uncommon presentation, clinical course and outcome.

Last modified: 2019-04-05 21:52:46