Article
Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report.
Journal of medical case reports - 29 Apr 2015
Sevinc Mustafa, Basturk Taner, Sahutoglu Tuncay, Sakaci Tamer, Koc Yener, Ahbap Elbis, Akgol Cuneyt, Kara Ekrem, Brocklebank Vicky, Goodship Tim H J, Kavanagh David, Unsal Abdulkadir
Abstract excerpt
INTRODUCTION: Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction. As the role of the complement system was elucidated in atypical hemolytic uremic syndrome pathogenesis, eculizumab was successfully introduced into clinical practice. We present a large pedigree with multiple individuals carrying a functionally significant...
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