dc.creator | Torres Durán, María | es |
dc.creator | López-Campos Bodineau, José Luis | es |
dc.creator | Rodríguez Hermosa, Juan Luis | es |
dc.creator | Esquinas, Cristina | es |
dc.creator | Martínez-González, Cristina | es |
dc.creator | Hernández Pérez, José María | es |
dc.creator | Rodríguez, Carlota | es |
dc.creator | Bustamante, Ana | es |
dc.creator | Casas Maldonado, Francisco | es |
dc.creator | Barrecheguren, Miriam | es |
dc.creator | González, Cruz | es |
dc.creator | Miravitlles, Marc | es |
dc.date.accessioned | 2023-06-02T14:19:45Z | |
dc.date.available | 2023-06-02T14:19:45Z | |
dc.date.issued | 2022-09-26 | |
dc.identifier.citation | Torres Durán, M., López-Campos Bodineau, J.L., Rodríguez Hermosa, J.L., Esquinas, C., Martínez-González, C., Hernández Pérez, J.M.,...,Miravitlles, M. (2022). Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO. ERJ Open Research, 8 (3), 00213-2022. https://doi.org/10.1183/23120541.00213-2022. | |
dc.identifier.issn | 2312-0541 | es |
dc.identifier.uri | https://hdl.handle.net/11441/146898 | |
dc.description.abstract | Background The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is frequent in Spain.
Method Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, PI*SZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PI*ZZ and PI*SZ patients.
Results 409 patients were included (53.8% men) with a mean±sd age of 53.5±15.9 years. Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 chronic obstructive pulmonary disease (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Patients with the PI*SZ genotype were younger, more frequently non-index cases and had a lower frequency of respiratory diseases except asthma compared with PI*ZZ patients. Among patients with respiratory diseases, PI*SZ individuals were significantly older both at onset of symptoms and at diagnosis; only asthma was more frequent in PI*SZ than in PI*ZZ individuals. Twelve PI*SZ patients (15.4%) received augmentation therapy compared with 94 PI*ZZ patients (66.2%; p<0.001).
Conclusions There is a high prevalence of PI*SZ in Spain. Patients with the PI*SZ genotype were older at symptom onset and diagnosis and had less severe lung disease compared with PI*ZZ patients. The prevalence of asthma was higher in PI*SZ, and up to 15% of PI*SZ patients received augmentation therapy. | es |
dc.format | application/pdf | es |
dc.format.extent | 10 p. | es |
dc.language.iso | eng | es |
dc.publisher | European Respiratory Society | es |
dc.relation.ispartof | ERJ Open Research, 8 (3), 00213-2022. | |
dc.rights | Atribución-NoComercial 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | * |
dc.title | Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.publisherversion | https://openres.ersjournals.com/content/8/3/00213-2022 | es |
dc.identifier.doi | 10.1183/23120541.00213-2022 | es |
dc.journaltitle | ERJ Open Research | es |
dc.publication.volumen | 8 | es |
dc.publication.issue | 3 | es |
dc.publication.initialPage | 00213-2022 | es |