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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorLópez-Campos Bodineau, José Luis
dc.contributor.authorOsaba, Lourdes
dc.contributor.authorCzischke, Karen
dc.contributor.authorJardim, José R
dc.contributor.authorFernandez Acquier, Mariano
dc.contributor.authorAli, Abraham
dc.contributor.authorMiravitlles Fernández, Marc
dc.date.accessioned2022-09-08T12:11:12Z
dc.date.available2022-09-08T12:11:12Z
dc.date.issued2022-06-10
dc.identifier.citationLopez-Campos JL, Osaba L, Czischke K, Jardim JR, Fernandez Acquier M, Ali A, et al. Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis. Respir Res. 2022 Jun 10;23:152.
dc.identifier.issn1465-993X
dc.identifier.urihttp://hdl.handle.net/11351/8080
dc.descriptionAlpha1 antitrypsin deficiency; Diagnosis; Dried blood spots
dc.description.abstractIntroduction Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with suspected AATD in Argentina, Brazil, Chile, Colombia, Spain, and Turkey. Methods This was an observational, cross-sectional analysis of samples from patients with suspected AATD from March 2018 to January 2022. Samples were coded on a web platform and sent by post or courier to the central laboratory in Northern Spain. Allele-specific genotyping for the 14 most common mutations was carried out with the A1AT Genotyping Test (Progenika-Grifols, Spain). SERPINA1 gene sequencing was performed if none of the mutations were found or one variant was detected in heterozygous status and the AAT serum level was < 60 mg/dl, or if requested by the clinician in charge. Results The study included 30,827 samples: 30,458 (94.7%) with final results after direct genotyping and 369 (1.1%) with additional gene sequencing. Only 0.3% of the samples were not processed due to their poor quality. The prevalence of the most frequent allele combinations was MS 14.7%, MZ 8.6%, SS 1.9%, SZ 1.9%, and ZZ 0.9%. Additionally, 70 cases with new mutations were identified. Family screening was conducted in 2.5% of the samples. Samples from patients with respiratory diseases other than COPD, including poorly controlled asthma or bronchiectasis, also presented AATD mutations. Conclusions Our results confirm the viability of this diagnostic system for genotyping AATD conducted simultaneously in different countries. The system has proved satisfactory and can improve the timely diagnosis of AATD.
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofseriesRespiratory Research;23
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectPulmons - Malalties obstructives
dc.subjectAlfa 1-antitripsina
dc.subjectGenotip
dc.subject.meshPulmonary Disease, Chronic Obstructive
dc.subject.meshalpha 1-Antitrypsin Deficiency
dc.subject.mesh/diagnosis
dc.subject.meshGenotype
dc.titleFeasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s12931-022-02074-x
dc.subject.decsenfermedad pulmonar obstructiva crónica
dc.subject.decsdeficiencia de alfa 1-antitripsina
dc.subject.decs/diagnóstico
dc.subject.decsgenotipo
dc.relation.publishversionhttps://doi.org/10.1186/s12931-022-02074-x
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Lopez-Campos JL] Unidad Médico-Quirúrgica de Enfermedades Respiratorias, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Sevilla, Spain. CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain. [Osaba L] Progenika Biopharma, a Grifols Company, Derio, Vizcaya, Spain. [Czischke K] Departamento de Neumología, Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile. [Jardim JR] Centro de Reabilitação Pulmonar da Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM/Unifesp), São Paulo, Brazil. [Fernandez Acquier M] Servicio de Neumonología, Hospital Cetrángolo, Vicente López, Buenos Aires, Argentina. [Ali A] Departamento Médico, Fundación Neumológica Colombiana, Bogotá, D.C., Colombia. [Miravitlles M] CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain. Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
dc.identifier.pmid35689213
dc.identifier.wos000809341400002
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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