α1-Antitrypsin deficiency and chronic respiratory disorders.

doi:10.1183/16000617.0073-2019

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Article

α1-Antitrypsin deficiency and chronic respiratory disorders.

European respiratory review : an official journal of the European Respiratory Society - 31 Mar 2020

Cazzola Mario, Stolz Daiana, Rogliani Paola, Matera Maria Gabriella

Abstract excerpt

α1-antitrypsin deficiency (AATD) is a hereditary disorder associated with a risk of developing liver disease and pulmonary emphysema, and other chronic respiratory disorders (mainly asthma and bronchiectasis); Z variant is the commonest deficient variant of AAT. Determining AAT concentration in serum or plasma and identifying allelic variants by phenotyping or genotyping are fundamental in the diagnosis of AATD....

Topics

Asthma
Bronchiectasis
Genetic Predisposition to Disease
Humans
Lung
Phenotype
Prognosis
Pulmonary Disease, Chronic Obstructive
Pulmonary Emphysema
Risk Assessment
Risk Factors
alpha 1-Antitrypsin Deficiency

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Identifiers

PMID: 32051168
DOI: 10.1183/16000617.0073-2019
PMCID: PMC9488707

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