The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil.
Manuela Brisot FelisbinoFrederico Leon Arrabal FernandesMaria Cecília Nieves Maiorano de NucciRegina Maria de Carvalho PintoEmilio PizzichiniAscédio José RodriguesPublished in: Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia (2019)
Our patients presented a high frequency of emphysema, bronchiectasis and bronchial thickening, and early-beginning respiratory symptoms. The most frequent genotype was Pi*ZZ. Heterozygous genotypes and normal levels of A1AT also manifested significant lung disease.