Rodriguez de Cordoba, SantiagoSubias Hidalgo, MartaPinto, SheilaTortajada Alonso, Agustín2025-01-142025-01-142014-05-05Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A. Genetics of atypical hemolytic uremic syndrome (aHUS). Semin Thromb Hemost. 2014 Jun;40(4):422-30. doi: 10.1055/s-0034-1375296. Epub 2014 May 5. PMID: 24799305.10.1055/s-0034-1375296https://hdl.handle.net/20.500.14352/114314Hemolytic 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.engAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/journal articlehttps://doi.org/10.1055/s-0034-1375296https://pubmed.ncbi.nlm.nih.gov/24799305/https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0034-1375296open access612.017Síndrome hemolítico urémico atípicoAnticuerposInmunologíaFactor B del complemento / genéticaFactor H del complemento / genéticaGenética médica2412 Inmunología