dc.creator | Miravitlles, Marc | es |
dc.creator | Turner, Alice M. | es |
dc.creator | Torres-Durán, María | es |
dc.creator | Tanash, Hanan | es |
dc.creator | Rodríguez-García, Carlota | es |
dc.creator | López-Campos Bodineau, José Luis | es |
dc.creator | Clarenbach, Christian F. | es |
dc.date.accessioned | 2023-10-30T14:08:42Z | |
dc.date.available | 2023-10-30T14:08:42Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | Miravitlles, M., Turner, A.M., Torres-Durán, M., Tanash, H., Rodríguez-García, C., López-Campos Bodineau, J.L. y Clarenbach, C.F. (2023). Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry. RESPIRATORY RESEARCH. https://doi.org/10.1186/s12931-022-02275-4. | |
dc.identifier.issn | 1465-993X | es |
dc.identifier.uri | https://hdl.handle.net/11441/149959 | |
dc.description.abstract | Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary
emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with
the objective of characterising the individuals with AATD and investigating their natural history.
Methods The EARCO registry is an international, observational and prospective study of individuals with AATD,
defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes
or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from
February 2020 to May 2022.
Results A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%),
followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed
by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with
impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%)
alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex,
exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated
with worse FEV1(%).
Conclusions EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross
sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional
impairment and factors associated with poor lung function. | es |
dc.format | application/pdf | es |
dc.language.iso | eng | es |
dc.publisher | BIOMED CENTRAL LTD | es |
dc.relation.ispartof | RESPIRATORY RESEARCH. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Registry | es |
dc.subject | Alpha-1 antitrypsin | es |
dc.subject | Phenotypes | es |
dc.title | Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry | 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.contributor.affiliation | Universidad de Sevilla. Instituto de Biomedicina de Sevilla (IBIS) | |
dc.relation.publisherversion | https://respiratory-research.biomedcentral.com/articles/10.1186/s12931-022-02275-4 | es |
dc.identifier.doi | 10.1186/s12931-022-02275-4 | es |
dc.journaltitle | RESPIRATORY RESEARCH | es |