Screening for alpha1-antitrypsin deficiency in Lithuanian patients with COPD

被引：10

作者：

Sitkauskiene, Brigita ^{[1
]}

Serapinas, Danielius ^{[1
]}

Blanco, Ignacio ^{[2
]}

Fernandez-Bustilto, Enrique ^{[3
]}

Janciauskiene, Sabina ^{[4
]}

Sakalauskas, Raimundas ^{[1
]}

机构：

[1] Kaunas Univ Med, Dept Pulm & Immunol, LT-50009 Kaunas, Lithuania

[2] Hosp Valle Nalon, Resp Dis Branch, Div Internal Med, Sama De Langreo, Principado Astu, Spain

[3] Univ Oviedo, Hosp Cent Asturias, Biostat Unit, E-33080 Oviedo, Principado Astu, Spain

[4] Lund Univ, Malmo Univ Hosp, Dept Clin Sci, S-22100 Lund, Sweden

来源：

RESPIRATORY MEDICINE | 2008年 / 102卷 / 11期

关键词：

Alpha1-antitrypsin deficiency; Chronic obstructive pulmonary disease; Screening; Population studies;

D O I：

10.1016/j.rmed.2008.07.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Alphal-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. Methods: 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. Results: Mean age and FEV1 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. Catculated 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). Conclusion: The OR for each genotypic class demonstrated a significant increase of MZ, SZ and ZZ genotypes in COPD patients. The results of the present study, with a significant number of ZZ individuals detected, support the general concept of targeted screening for AAT deficiency in countries like Lithuania, with a large population of COPD patients and tow awareness among care-givers about this genetic condition. (C) 2008 Elsevier Ltd. All rights reserved.

引用

页码：1654 / 1658

页数：5

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