Alpha1-Antitrypsin (alpha1-AT) deficiency is a hereditary disorder characterized by a high risk for the development of emphysema at an early age.
In 1988, the National Heart, Lung and Blood Institute, National Institutes of Health, initiated a registry of individuals with alpha1-AT deficiency to help define the natural history and clinical course of this disorder.
This article describes demographic and clinical characteristics of subjects enrolled in the Registry at baseline.
Prospective longitudinal natural history study.
Thirty-seven clinical centers in the United States (36 centers) and Canada (one center).
There were 1,129 subjects 18 years of age or older with severe deficiency of alpha1-AT, defined as having serum alpha1-AT levels ¾11 mumol/L confirmed by a Central Phenotyping Laboratory, or a ZZ or ZNull genotype identified by genomic DNA analysis.
Most enrollees were symptomatic white subjects in their fourth to sixth decade, with a ZZ phenotype, a history of having smoked cigarettes, and pulmonary function tests demonstrating a pattern consistent with emphysema.
Interestingly, only a small percentage were current smokers on enrollment, suggesting that this population is amenable to smoking cessation. (...)
Mots-clés Pascal : Déficit, alpha1-Antitrypsine, Emphysème, Fonction respiratoire, Etats Unis, Amérique du Nord, Amérique, Epidémiologie, Homme, Canada, Enzymopathie, Maladie héréditaire, Appareil respiratoire pathologie, Poumon pathologie, Bronche pathologie, Bronchopneumopathie obstructive
Mots-clés Pascal anglais : Deficiency, alpha1-Antitrypsin, Emphysema, Lung function, United States, North America, America, Epidemiology, Human, Canada, Enzymopathy, Genetic disease, Respiratory disease, Lung disease, Bronchus disease, Obstructive pulmonary disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0204935
Code Inist : 002B11B. Création : 21/05/1997.