A familial form of Atypical Hemolytic Uremic Syndrome associated with CD46 deficiency
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy defined by the association of mechanical hemolytic anemia, consumptive thrombocytopenia and acute renal failure secondary to dysregulation of the alternative complement pathway. Mutations in the genes of CFH, CFI and CD46 have been reported in 30%, 15%, and 10% respectively. This report describes, for the first time, a familial case of aHUS associated with CD46 deficiency.
Fields of Study & Subjects
Complement system in diseases
Coagulation
Bradykinin
Polyphosphates
and Angioedema
Renal Diseases and Glomerulopathies
Publication details
- Journal / source
- World Allergy Organization Journal
- Volume
- 19
- Issue
- 2
- Pages
- 101275–101275
- Publication date
- 1 February 2026
- Language
- EN