[Analysis of alpha-1-antitrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema]

An increased risk for the development of emphysema occurs in all carriers of deficient variants of Alpha-1-Antitrypsin (A1AT). A DNA polymorphism in the 3' promoter region of A1AT gene (locus Pi), which is important for a modulation of gene expression in a response to inflammation, seems to be an additional genetic risk factor for emphysema. In the study, we present two relatively young patients with panlobular lung emphysema associated with a normal level of A1AT in serum. To contribute to our knowledge about a molecular basis of the pulmonary changes, the evaluation of A1AT phenotype with the use of an isoelectrofocusing of serum proteins and the analysis of DNA polymorphism in the 3' region of A1AT gene (Taq I RFLP) have been performed. The obtained results indicate on a necessity to include procedures of A1AT phenotyping and locus Pi genotyping in both the population screening of patients and the detailed clinical diagnostics of young patients with emphysema and/or COPD.