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Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia.

BMC pulmonary medicine - 4 May 2023

Alí-Munive Abraham, Leidy Prada, Proaños Nadia Juliana, Pedrozo-Pupo John, Giraldo Angela, Cano Diana, Diaz-Bossa Claudia, Mosquera Ricardo, Paul Hector, Gonzalez-García Mauricio, Aguirre-Franco Carlos, López-Campos José Luis, Casas-Herrera Alejandro

Abstract excerpt

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder associated mainly with pulmonary emphysema and Chronic Obstructive Pulmonary Disease (COPD). All individuals with COPD regardless of age or ethnicity should be tested for AATD, but in Colombia its prevalence in unknown. MAIN OBJECTIVE: To determine the prevalence of the genetic mutations, present in AATD in adult patients...

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Identifiers

PMID: 37143026
DOI: 10.1186/s12890-023-02453-0
PMCID: PMC10158008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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