Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD

Respiratory Medicine
Brigita SitkauskieneRaimundas Sakalauskas

Abstract

Alpha1-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The objective of the present screening was to estimate the AAT gene frequency and prevalence and to identify AAT deficiency cases in a large cohort of Lithuanian patients with COPD. A nationwide program of AAT deficiency was conducted in 1167 COPD patients, defined according to the GOLD criteria. Patients were collected from outpatient clinics in five different Lithuanian regions (Kaunas, Vilnius, Siauliai, Klaipeda and Alytus). AAT serum concentrations were measured by nephelometry; PI-phenotypes characterized by isoelectric-focusing. Mean age and FEV(1) were 62.0 (10.3) and 54.7% (10.9), respectively. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were identified. Calculated PI(*)S and PI(*)Z frequencies, expressed in per 1000, were 18.8 (95% CI: 13.9-25) and 25.3 (95% CI: 19.4-32.7), respectively. The calculated AAT gene prevalence (Hardy-Weinberg principle) was: 1/1.09 for MM, 1/28 for MS, 1/2814 for SS, 1/20 for MZ, 1/1049 for SZ and 1/1565 for ZZ. Calculated Odds ratio (OR) for PI(*)Z in COPD vs. Lithuanian healthy people was of 1.87 (P=0.004). The OR for each genotypi...Continue Reading

Citations

Apr 29, 2015·The Clinical Respiratory Journal·Timm GreulichSandra Camprubí
Mar 4, 2011·Respiratory Medicine·Sabina M JanciauskieneTobias Welte
Nov 5, 2016·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Rodrigo RussoJosé Roberto Jardim
Nov 2, 2017·Multidisciplinary Respiratory Medicine·Ardak ZhumagaliyevaIlaria Ferrarotti
Jan 11, 2012·Current Opinion in Pulmonary Medicine·Mauro ProvincialiFrancesca Marchegiani

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