RESUMO
BACKGROUND: Heart transplantation (HT) is a well-established lifesaving treatment for endstage cardiac failure. Antibody-mediated rejection (AMR) represents one of the main problems after HT because of its diagnostic complexity and the poor evidence for supporting treatments. Complement cascade and B-cells play a key role in AMR and contribute to graft damage. This study explored the importance of variants in genes related to complement pathway and B-cell biology in HT and AMR in donors and in donor-recipient pairs.MethodsâandâResults:Genetic variants in 112 genes (51 complement and 61 B-cell biology genes) were analyzed on next-generation sequencing in 28 donor-recipient pairs, 14 recipients with and 14 recipients without AMR. Statistical analysis was performed with SNPStats, R, and EPIDAT3.1. We identified one single nucleotide polymorphism (SNP) in donors in genes related to B-cell biology,interleukin-4 receptor subunitα (p.Ile75Val-IL4Rα), which correlated with the development of AMR. Moreover, in the analysis of recipient-donor genotype discrepancies, we identified another SNP, in this case inadenosine deaminase(ADA; p.Val178(p=)), which was related to B-cell biology, associated with the absence of AMR. CONCLUSIONS: Donor polymorphisms and recipient-donor discrepancies in genes related to the biology of B-cells, could have an important role in the development of AMR. In contrast, no variants in donor or in donor-recipient pairs in complement pathways seem to have an impact on AMR.
Assuntos
Linfócitos B , Rejeição de Enxerto , Transplante de Coração , Sequenciamento de Nucleotídeos em Larga Escala , Isoanticorpos/imunologia , Polimorfismo de Nucleotídeo Único , Doadores de Tecidos , Adulto , Linfócitos B/imunologia , Linfócitos B/patologia , Feminino , Rejeição de Enxerto/genética , Rejeição de Enxerto/imunologia , Rejeição de Enxerto/patologia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Peripheral extracorporeal membrane oxygenation (ECMO) is associated with a not negligible rate of vascular morbidity. Most vascular complications are related to limb ischaemia mainly due to insufficient limb perfusion or embolic events. To the best of our knowledge, this is the first report of a severe epidermolysis and overflow syndrome as a result of an overperfusion phenomenon through an unknown femoral arterio-venous fistula in a patient requiring ECMO support.
