Más allá de la enfermedad pulmonar obstructiva crónica
- Beatriz Rescalvo Arjona
- José María Hernández Pérez
- Sergio Fumero García
- Claudia Viviana López Charry
- José Antonio Pérez Pérez
ISSN: 0214-8986
Year of publication: 2019
Volume: 8
Issue: 3
Type: Article
More publications in: Medicina general
Abstract
Chronic obstructive pulmonary disease can occur for several causes being the most frequent smoking. However, up to 3% of cases are of genetic origin being the alpha-1 antitrypsin deficiency (AATD) the main protagonist. AATD is a genetic condition, first described in 1963 by Laurell and Erikson, characterized by low serum levels of the alpha-1 antitrypsin (AAT) protein, which predispose to the early development of pulmonary emphysema, hepatopathy in children and adults, and less frequently, neutrophilic panniculitis and systemic vasculitis. About 125 allelic variants of the gene encoding AAT have been described, which are classified as normal or deficient, and these in turn are common, rare depending on their frequency in the population and the serum concentrations they express.We present the clinical case of a 56-year-old woman, who debuted with effort dyspnea of 2-3 months of evolution, in which, after performing different diagnostic tests, a DAAT originated by the Pi*Z/Mmalton variant was evidenced.