Atypical Hemolytic Uremic Syndrome: Atypical Course and Atypical Mutations Combination

Authors:

Sofia OC¹*, Josefina S¹, Carla M¹, Jorge M¹, Patricia S², Teresa F² and António C¹

DOI: 10.23880/oajun-16000114

Volume 2, Issue 1

Abstract

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.

Keywords:

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

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