Loading...
Please wait, while we are loading the content...
Similar Documents
Perfil dos pacientes com mutação no gene da alfa-1 antitripsina em um centro de referência no Brasil
| Content Provider | Semantic Scholar |
|---|---|
| Author | Felisbino, Manuela Brisot Fernandes, Frederico Leon Arrabal Nucci, Maria Cecília Nieves Maiorano De Pinto, Regina Maria Carvalho Pizzichini, Emilio Cukier, Alberto |
| Copyright Year | 2018 |
| Abstract | Objectives: Clinical, functional, radiological and genotypic description of patients with alpha-1 antitrypsin (A1AT) gene mutation in a reference center in Brazil. Methods: Transversal study of patients with A1AT gene mutation compatible with deficiency, with confirmed diagnosis until 28/02/2015. We evaluated the A1AT dosage and genotypic, demographic, clinical, tomographic, and functional characteristics of these patients; and an exploratory statistical analysis was done. Results: 27 A1AT deficiency (A1ATD) patients confirmed by genotyping, A1AT median dosage was 45mg/dl, and normal dosage occurred in 4 patients (15%). Median age was 54, 63% male, and the respiratory symptoms started at the age of 40. The median FEV1 was 1.37L (43% predicted). Tomographic emphysema was found in 77,8% of individuals, being panlobular in 76% and lower lobes predominance in 48%. The frequency of bronchiectasis was 52% and bronchial thickening 81,5%. The most common genotype was Pi*ZZ in 40,7% of participants. The other genotypes found were: Pi*SZ (18,5%), PiM1Z (14,8%), Pi*M1S (7,4%), Pi*M2Z (3,7%), Pi*M1I (3,7%), Pi*ZMnichinan (3,7%), Pi*M3Plowell (3,7%), Pi*SF (3,7%). We didn ́t find any significant difference in age, smoking load, FEV1, and presence of bronchiectasis between groups with normal or reduced A1AT dosage, neither for 1 nor 2 allele mutation for A1ATD. The A1ATD prevalence in our reference center was 5,1%. Conclusion: The most frequent genotype was Pi*ZZ, though heterozygous genotypes and normal levels of A1AT also manifested significant lung disease. We found lower median values for A1AT and FEV1, high frequency of emphysema, bronchiectasis and bronchial thickening, and early beginning of respiratory symptoms. |
| Starting Page | 383 |
| Ending Page | 389 |
| Page Count | 7 |
| File Format | PDF HTM / HTML |
| DOI | 10.1590/S1806-37562017000000420 |
| Volume Number | 44 |
| Alternate Webpage(s) | https://repositorio.ufsc.br/bitstream/handle/123456789/189034/PMED0236-D.pdf?isAllowed=y&sequence=-1 |
| Alternate Webpage(s) | https://doi.org/10.1590/S1806-37562017000000420 |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
