English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/99484
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

Genetics of atypical hemolytic uremic syndrome (aHUS)

AuthorsRodríguez de Córdoba, Santiago ; Subías, Marta; Pinto, Sheila ; Tortajada, Agustín
Issue DateApr-2014
PublisherThieme
CitationSeminars in Thrombosis and Hemostasis 40: 422- 430 (2014)
AbstractHemolytic uremic syndrome (HUS) is a rare, life-threatening disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical form of HUS (aHUS), representing 5 to 10% of cases, lacks the association with infection by Shiga toxin producing Escherichia coli strains that characterizes the commonest clinical presentation of HUS. In the majority of aHUS cases, the disease results from the complement-mediated damage to the microvascular endothelium because of inherited defects in complement genes or autoantibodies against complement regulatory proteins. Incomplete penetrance of aHUS in carriers of mutations is common to all aHUS-associated complement genes and it is now established that the overall genetic predisposition to aHUS of an individual results from the combination of different inherited factors. Moreover, the patient's genotype influences the clinical evolution, the response to plasma therapies, and the recurrence after transplantation. Here, we describe the genetic component of aHUS, the lessons that we have learned from the functional characterization of the aHUS-associated mutations, and the benefits of a comprehensive genetic analysis of the patients. © 2014 by Thieme Medical Publishers, Inc.
Description29 p.-3 fig.
URIhttp://hdl.handle.net/10261/99484
DOI10.1055/s-0034-1375296
ISSN1098-9064
Appears in Collections:(CIB) Artículos
Files in This Item:
File Description SizeFormat 
Rodriguez de Cordoba et al_2014_Sem Thromb Hem.pdf289,41 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.