Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant

Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease characterized by microangiopathic hemolysis, thrombocytopenia, and renal impairment and is associated with dysregulation of the alternative complement pathway on the microvascular endothelium. Outcomes have improved greatly with phar...

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Bibliographische Detailangaben
Veröffentlicht in:Front Med (Lausanne)
Hauptverfasser: Piras, Rossella, Iatropoulos, Paraskevas, Bresin, Elena, Todeschini, Marta, Gastoldi, Sara, Valoti, Elisabetta, Alberti, Marta, Mele, Caterina, Galbusera, Miriam, Cuccarolo, Paola, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2020
Schlagworte:
Medicine
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7670076/
https://ncbi.nlm.nih.gov/pubmed/33224962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmed.2020.579418
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