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Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry
M. Miravitlles, AM. Turner, M. Torres-Duran, H. Tanash, C. Rodríguez-García, JL. López-Campos, J. Chlumsky, C. Guimaraes, JL. Rodríguez-Hermosa, A. Corsico, C. Martinez-González, JM. Hernández-Pérez, A. Bustamante, DG. Parr, F. Casas-Maldonado,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, pozorovací studie
NLK
BioMedCentral
od 2000-04-01
BioMedCentral Open Access
od 2000
Directory of Open Access Journals
od 2000
Free Medical Journals
od 2000
PubMed Central
od 2000
Europe PubMed Central
od 2000
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2000-06-01
Open Access Digital Library
od 2000-01-01
Open Access Digital Library
od 2000-01-01
Medline Complete (EBSCOhost)
od 2000-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2000
Springer Nature OA/Free Journals
od 2000-04-01
- MeSH
- alfa-1-antitrypsin genetika MeSH
- bronchiektazie * diagnóza epidemiologie MeSH
- chronická obstrukční plicní nemoc * genetika MeSH
- deficit alfa1-antitrypsinu * diagnóza epidemiologie genetika MeSH
- genotyp MeSH
- lidé MeSH
- plicní emfyzém * diagnóza epidemiologie komplikace MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- registrace MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
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. Trial registration www. CLINICALTRIALS: gov (ID: NCT04180319).
Clinic for Respiratory Diseases University Hospital Center Zagreb Zagreb Croatia
Department of Internal Medicine and Therapeutics University of Pavia Pavia Italy
Department of Pulmonology Leiden University Medical Center Leiden The Netherlands
Department of Respiratory Diseases University Hospitals Leuven Leuven Belgium
Division of Pulmonology University Hospital Zurich Zurich Switzerland
Institute of Applied Health Research University of Birmingham Birmingham UK
Pneumology Department Hospital Universitari Vall d'Hebron
Pneumology Section Hospital Sierrallana TresMares Cantabria Spain
Pneumology Unit IRCCS San Matteo Hospital Foundation Pavia Italy
Pulmonology Department Hospital da Senhora da Oliveira Guimarães Portugal
Research Institute of Hospital Clínico San Carlos Madrid Spain
Respiratory Medicine University Hospitals Birmingham NHS Foundation Trust Birmingham UK
Citace poskytuje Crossref.org
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