Bals Robert, Koczulla Rembert, Kotke Viktor, Andress Juergen, Blackert Karlheinz, Vogelmeier Claus
Department of Internal Medicine, Division for Pulmonary Diseases, Hospital of the University of Marburg, Philipps-Universtät Marburg, Baldingerstrasse 1, 35043 Marburg, Germany.
Respir Med. 2007 Aug;101(8):1708-14. doi: 10.1016/j.rmed.2007.02.024. Epub 2007 Apr 10.
Alpha-1-antitrypsin deficiency (AATD) is significantly underdiagnosed. The early detection of AATD would enable affected persons to make lifestyle changes such as quitting smoking. It was the aim of the study to determine whether the combination of an awareness program with the offer of a cost-free diagnostic test results in the identification of a significant number of individuals with severe AATD.
We combined a series of measures to promote awareness with the offer of a diagnostic test at no charge. Test blood was applied to a filter paper and sent to our laboratory. The level of AAT was measured by nephelometry, the presence of the S- or Z-allele was determined by PCR, and phenotyping was performed by isoelectric focusing.
During 37 months 17688 testing kits were distributed and 2722 were sent back to our laboratory. We identified 335 patients with severe AATD including 16 individuals with rare genotypes. Prescreening by determining the AAT serum levels by the submitting physician increased the detection rate as compared to similar programs that screened unselected individuals.
These data show that the combination of an awareness program with the offer of free diagnostic testing results in the identification of a large number individuals with severe AATD.
α1-抗胰蛋白酶缺乏症（AATD）的诊断明显不足。早期发现AATD可使患者改变生活方式，如戒烟。本研究的目的是确定提高认识项目与提供免费诊断检测相结合是否能识别出大量患有严重AATD的个体。
我们将一系列提高认识的措施与提供免费诊断检测相结合。将检测血样涂在滤纸上并送至我们的实验室。通过比浊法测量AAT水平，通过聚合酶链反应确定S或Z等位基因的存在，并通过等电聚焦进行表型分析。
在37个月内，共发放了17688个检测试剂盒，其中2722个被送回我们的实验室。我们识别出335例严重AATD患者，其中包括16例具有罕见基因型的个体。与筛查未经过挑选个体的类似项目相比，由提交检测样本的医生通过测定AAT血清水平进行预筛查提高了检测率。
这些数据表明，提高认识项目与提供免费诊断检测相结合能够识别出大量患有严重AATD的个体。
