Más allá de la enfermedad pulmonar obstructiva crónica
2019
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.
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