PT  - JOURNAL ARTICLE
AU  - Joanna Chorostowska-Wynimko
AU  - Anna Kubincova
AU  - Nikolay Yanev
AU  - Ruxandra Ulmeanu
AU  - Radoslaw Struniawski
AU  - Pavol Pobeha
AU  - Nikolay Kyuchukov
AU  - Oana Deleanu
AU  - Beata Poplawska
AU  - Ruzena Tkacova
AU  - Yavor Ivanov
AU  - Florin Dumitru Mihaltan
AU  - Arunas Valiulis
TI  - The incidence of severe alpha-1-antitrypsin (AAT) deficiency alleles in COPD patients — Preliminary results from Central Eastern European (CEE) AAT NETWORK
DP  - 2013 Sep 01
TA  - European Respiratory Journal
PG  - P541
VI  - 42
IP  - Suppl 57
4099  - http://erj.ersjournals.com/content/42/Suppl_57/P541.short
4100  - http://erj.ersjournals.com/content/42/Suppl_57/P541.full
SO  - Eur Respir J2013 Sep 01; 42
AB  - Data concerning the prevalence of AAT deficiency in general population or respiratory patients in CEE countries are limited or non-existent. The overwhelming majority of individuals with AAT deficiency remains undiagnosed. We present preliminary data from the CEE A1AT Network, recently established within the LPP Leonardo da Vinci EU program (2011-1-PL-LEO04-197151)“Introducing standards of the best medical practice for the patients with inherited Alpha-1 Antitrypsin Deficiency in Central Eastern Europe”DBS samples were collected from 328 COPD patients between October 2012-January 2013 in Poland (n=198), Bulgaria (n=44), Romania (n=26) and Slovakia (n=60). AAT serum concentration in DBS was measured by nephelometry and PI-phenotype identified by real-time PCR. The PI*S and PI*Z alleles were confirmed by isoelectrofocusing; rare phenotypes were identified by sequencing.Results: PI*S or PI*Z deficiency alleles were observed respectively in 14 (4,27%) and 30 (9,14 %) patients. There were 6 patients with rare AAT mutations: FM-3, IM-2, Mzbristol-1. In total, any AAT mutation was diagnosed in 48 COPD patients (14,63%). The calculated frequency for PI*Z and PI*S alleles in overall tested population was 46,1 (95% CI: 31,1-60,9) and 15,8 (95% CI: 6,92-24,6), respectively. The AAT gene prevalence calculated by Hardy-Weinberg equilibrium was: 1/1.15 for MM, 1/34 for MS, 1/4011 for SS, 1/12 for MZ, 1/688 for SZ and 1/471 for ZZ.Conclusion: Our results confirm the relatively high frequency of AAT deficiency in COPD patients from CEE. This is the very first attempted to establish the diagnostic and scientific collaboration for AATD in CEE.