Article
Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia - 1 Jan 2024
Feitosa Paulo Henrique Ramos, Castellano Maria Vera Cruz de Oliveira, Costa Claudia Henrique da, Cardoso Amanda da Rocha Oliveira, Pereira Luiz Fernando Ferreira, Fernandes Frederico Leon Arrabal, Costa Fábio Marcelo, Felisbino Manuela Brisot, Oliveira Alina Faria França de, Jardim Jose R, Miravitlles Marc
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene,...
Topics
- Humans
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency
- Genotype
- Mutation
- Phenotype
- Pulmonary Emphysema