[Pulmonary aspects in alpha-1-antitrypsin deficiency].
Alpha-1-antitrypsin deficiency is an autosomal hereditary disorder and the large majority of individuals with severe deficiency are protease inhibitor type ZZ. The disease occurs predominantly in white persons of European origin and its frequency in Europe and North America is comparable to that of cystic fibrosis (1 in 2000 to 1 in 7000). Persons with this deficiency may have no clinical manifestations, but the most prevalent clinical disorder associated, also pointed as the most frequent cause of disability and death, is chronic obstructive pulmonary disease. In those individuals, tobacco smoking is the major risk. The condition appears to be widely underdiagnosed, based on studies. Several strategies have been explored in the treatment of this deficiency.
Schmid Melo Neto
Luiza Erika
LE
Universidade Federal Fluminense, Niterói, Estado do Rio de Janeiro, Brasil.
Teixeira da Silva Junior
Cyro
C
Cardoso
Gilberto Perez
GP
Santos Ferreira
Angela
A
da Costa Marino
Guilherme
G
Monteiro
Nicolau Pedro
NP
D015984:Causality; D006801:Humans; D008171:Lung Diseases / Q000209:etiology*; D011379:Prognosis; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis / Q000209:etiology / Q000235:genetics