Home > LILACS - Literatura Latinoamericana y del Caribe de Ciencias de la Salud > Search result

Results: 3

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

Jardim, José R; Casas-Maldonado, Francisco; Fernandes, Frederico Leon Arrabal; Castellano, Maria Vera Cruz de O; Torres-Durán, María; Miravitlles, Marc.
J. bras. pneumol; 47 (3), 2021
ABSTRACT Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. Early diagnosis is essential for implementing preventive meas...
Brasil, Mutación, alfa 1-Antitripsina/genética, Deficiencia de alfa 1-Antitripsina/diagnóstico, Deficiencia de alfa 1-Antitripsina/genética
Fulltext

The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in Brazil

Felisbino, Manuela Brisot; Fernandes, Frederico Leon Arrabal; Nucci, Maria Cecília Nieves Maiorano de; Pinto, Regina Maria de Carvalho; Pizzichini, Emilio; Cukier, Alberto.
J. bras. pneumol; 44 (5), 2018
ABSTRACT Objective: The clinical, functional, radiological and genotypic descriptions of patients with an alpha-1 antitrypsin (A1AT) gene mutation in a referral center for COPD in Brazil. Methods: A cross-sectional study of patients with an A1AT gene mutation compatible with deficiency. We evaluated th...
Estudios Transversales, Genotipo, Mutación/genética, Fenotipo, Pruebas de Función Respiratoria, Tomografía Computarizada por Rayos X, alfa 1-Antitripsina/genética, Deficiencia de alfa 1-Antitripsina/genética, Deficiencia de alfa 1-Antitripsina/diagnóstico
Fulltext

Déficit de Alfa-1-antitripsina y su tratamiento
Alpha-1 antitrypsin deficiency and its treatment

Cid Q, Catherina; Sbarbaro A, Daniella; Schilling, Sara; Silva S, Boris; Larraín, Diego; Mendoza I, Laura.
Rev. Hosp. Clin. Univ. Chile; 28 (3), 2017
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by a mutation in the codifying gene for the alpha-1 antitrypsin (AAT) protein, which has anti-elastase activity. While there is extensive genetic variability, the most common genotypes associated with AATD are PI*Z y PI*S. Most clinical m...
Deficiencia de alfa 1-Antitripsina/terapia, Deficiencia de alfa 1-Antitripsina/genética, Deficiencia de alfa 1-Antitripsina/fisiopatología, Deficiencia de alfa 1-Antitripsina/diagnóstico
Fulltext