1. Deficiencia de alfa 1 anti-tripsina: una patología común pero infradiagnosticada.
- Author
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Ahumada-Ramírez, Jorge, Mantilla-Morales, Yohana, Gaona-Pineda, Henry, and Araque-Libreros, Saray
- Subjects
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ALPHA 1-antitrypsin , *SERINE proteinases , *LUNG volume , *LUNG volume measurements , *PULMONARY emphysema - Abstract
α1-antitrypsin (AATD) deficiency is a genetic condition that causes low levels of this protein whose main function is to inhibit serine proteases, leading mainly to lung and liver damage. We describe the case of a 61-year-old man with symptoms of dyspnea, fixed airflow obstruction, decreased CO2 diffusion capacity and lung volumes that demonstrated hyperinflation, with low exposure risk, in whom severely decreased α1- antitrypsin levels were evident. Subsequently, a genotypic study was carried out that confirmed the presence of PI*Z alleles (PI*ZZ), considering it a serious decrease. This required initiation of intravenous alpha 1 antitrypsin therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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