The genetics of atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by thrombocytopenia and microangiopathic hemolytic anemia due to endothelial injury. aHUS is felt to be caused by defective complement regulation due to underlying genetic mutations in complement regulators or activators, most oft...

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Veröffentlicht in:	Medizinische Genetik 2018, Vol.30 (4), p.400-409
Hauptverfasser:	Feitz, Wouter J. C., van de Kar, Nicole C. A. J., Orth-Höller, Dorothea, van den Heuvel, Lambert P. J. W., Licht, Christoph
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative complement pathway Alternative pathway Alternativer Komplementweg Complement component C3 Complement factor H Complement system Endothel Endothelium Gene Therapy Gynecology Hemolytic anemia Hemolytic uremic syndrome Human Genetics Komplementsystem Medicine Medicine & Public Health Membrane proteins Microangiopathic hemolytic anemia Mikroangiopathische haemolytische Anaemie Mutation Oncology Pathogenesis Reproductive Medicine Schwerpunktthema: Erbliche Nierenerkrankungen Thrombocytopenia Thrombotic microangiopathy Thrombotische Mikroangiopathie
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