Аннотация
Ardak ZHUMAGALIYEVA is the recipient of a European Respiratory Society Fellowship (STRTF 2015-8199) Background: Alpha1-antitrypsin (AAT) deficiency is a rare and under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD) and it mainly affects the Caucasian population. Objective: We aimed to identify AAT deficiency cases in Kazakh patients with COPD, in order to estimate the prevalence of this rare disease in Kazakhstan. Methods: 187 Kazakh subjects with COPD were recruited. Blood samples were collected as dried blood spot. The AAT concentration was determined by nephelometry. Genotype and phenotype analysis were performed if AAT concentration was lower than 1.04 g/L. Demographic and clinical data were reported. Results: Genotyping of 187 samples revealed 3 (1.6%) PI*MZ, and 1 (0.53%) PI*MS. Phenotyping identified also two samples (1.1%) with phenotype PIMI. Allelic frequencies of pathological mutations Z, S and I resulted 0.8%, 0.3%, 0.5%, respectively, in COPD Kazakh population. Conclusion: The results of the present study support the general concept of targeted screening for AAT deficiency in countries like Kazakhstan, with a large population of COPD patients and low awareness among care-givers about this genetic condition.