Please use this identifier to cite or link to this item: https://dipositint.ub.edu/dspace/handle/2445/192559
Title: Diagnosis of alpha1-antitrypsin deficiency not just in severe COPD
Author: Nuñez, Alexa
Barrecheguren, Miriam
Rodriguez, Esther
Miravitlles Fernández, Marc
Esquinas López, Cristina
Keywords: Malalties hereditàries
Malalties dels pulmons
Diagnòstic
Genetic diseases
Pulmonary diseases
Diagnosis
Issue Date: Nov-2018
Publisher: Elsevier
Abstract: Alpha1-antitrypsin deficiency (AATD) is a well known genetic risk factor for pulmonary disease and is the most frequent hereditary disease diagnosed in adults. Despite being one of the most common hereditary diseases, AATD remains under-diagnosed because of its variable clinical presentation and the poor knowledge of this disease by physicians. With the aim of identifying clinical differences that could influence early diagnosis, we compared two groups of six AATD Pi*ZZ patients with different lung function severity and clinical expression at diagnosis. On comparing the two groups, we observed a younger mean age at diagnosis and more exacerbations in the severe group, but the percentage of smokers did not statistically differ between the two groups. Our results suggest that AATD continues being a disease suspected on younger patients with a worse lung function. In addition these findings confirm the clinical variability of the disease and that there are still unknown factors that contribute to its development. Therefore, early diagnosis may modify the prognosis of this disease.
Note: Reproducció del document publicat a: https://doi.org/10.1016/j.pulmoe.2018.05.005
It is part of: Pulmonology, 2018, vol. 24, num. 6, p. 351-353
URI: https://hdl.handle.net/2445/192559
Related resource: https://doi.org/10.1016/j.pulmoe.2018.05.005
ISSN: 2531-0437
Appears in Collections:Articles publicats en revistes (Infermeria de Salut Pública, Salut mental i Maternoinfantil)

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