Alpha-1 Antitrypsin Genotype Distribution in Patients with Emphysema.

doi:10.2147/COPD.S531347

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Article

Alpha-1 Antitrypsin Genotype Distribution in Patients with Emphysema.

International journal of chronic obstructive pulmonary disease - 1 Jan 2025

Özdemir Levent, Gegin Savaş, Özdemir Burcu, Aksu Esra Arslan, Pazarlı Ahmet Cemal

Abstract excerpt

Purpose: Alpha-1 antitrypsin deficiency (AATD) is a rare inherited condition characterized by low serum levels of alpha-1 antitrypsin (AAT). In this study, we aimed to determine the frequency of AATD in patients with emphysema, to show the distribution of AATD genotypes according to the type and localization of emphysema, and to evaluate patients in terms of augmentation therapy. Patients and Methods: This...

Topics

Humans
Male
Female
alpha 1-Antitrypsin Deficiency
Pulmonary Emphysema
Middle Aged
alpha 1-Antitrypsin
Cross-Sectional Studies
Aged
Genotype
Phenotype
Mutation
Genetic Predisposition to Disease
Adult

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Identifiers

PMID: 40821999
DOI: 10.2147/COPD.S531347
PMCID: PMC12356220

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