α-1抗胰蛋白酶水平对慢性阻塞性肺疾病（COPD）患者遗传性缺陷检测的敏感性。
Sensitivity of alpha-1 antitrypsin level for inherited deficiency detection in COPD patients.
作者信息
Serapinas Danielius, Sakalauskas Raimundas
机构信息
Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences.
出版信息
Pneumologia. 2012 Jan-Mar;61(1):34-6.
BACKGROUND AND OBJECTIVE
Alpha-1 antitrypsin deficiency is an underdiagnosed condition in patients with chronic obstructive pulmonary disease. Diagnosis of this genetic condition is confirmed by genetic verification of pathology, but for screening purposes quantitative methods can be useful. The aim of our study was to evaluate sensitivity and specificity of quantitative methods for alpha-1 antitrypsin deficiency detection.
METHODS
Serum alpha-1 antitrypsin concentrations from patients (n = 1167) with chronic obstructive pulmonary disease, defined according to the GOLD criteria, were analysed by nephelometry, alpha-1 antitrypsin genotype was determined by means of isoelectric-focusing.
RESULTS
Eight severe alpha-1 antitrypsin deficiency genotypes in homozygous type (ZZ) and 40 in heterozygous genotype (-Z) were identified. Calculated sensitivity of quantitative alpha-1 antitrypsin measurement by nephelometry for heterozygous PI*Z allele is 45% and for homozygous ZZ genotype is 88%. Specificity of quantitative alpha-1 antitrypsin deficiency determining analysis is 99%.
CONCLUSIONS
A case detection program of alpha-1 antitrypsin deficiency in patients with chronic obstructive pulmonary disease using quantitative methods is specific, but due to limited sensitivity should be used only in screening programs.
背景与目的
α1抗胰蛋白酶缺乏症在慢性阻塞性肺疾病患者中是一种诊断不足的疾病。这种遗传性疾病的诊断通过病理学的基因验证来确认，但出于筛查目的，定量方法可能会有所帮助。我们研究的目的是评估检测α1抗胰蛋白酶缺乏症的定量方法的敏感性和特异性。
方法
对根据全球慢性阻塞性肺疾病倡议（GOLD）标准定义的慢性阻塞性肺疾病患者（n = 1167）的血清α1抗胰蛋白酶浓度进行散射比浊法分析，通过等电聚焦法确定α1抗胰蛋白酶基因型。
结果
鉴定出8种纯合子型（ZZ）的严重α1抗胰蛋白酶缺乏基因型和40种杂合子基因型（-Z）。通过散射比浊法进行定量α1抗胰蛋白酶测量，对于杂合子PI*Z等位基因的计算敏感性为45%，对于纯合子ZZ基因型为88%。定量α1抗胰蛋白酶缺乏症测定分析的特异性为99%。
结论
使用定量方法对慢性阻塞性肺疾病患者进行α1抗胰蛋白酶缺乏症病例检测计划具有特异性，但由于敏感性有限，仅应在筛查计划中使用。
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