Chorostowska-Wynimko Joanna, Struniawski Radosław, Popławska Beata, Borszewska-Kornacka Maria
Samodzielna Pracownia Diagnostyki Molekularnej i Immunologii IGiCHP, ul. Płocka 26, 01–138 Warszawa.
Pneumonol Alergol Pol. 2012;80(5):450-3.
Inherited alpha-1 antitrypsin deficiency (A1ATD) is listed among the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. Data on the A1ATD prevalence in Poland are scarce, no studies with large enough groups representative for whole Polish population have been performed. Here, we present the preliminary data on the incidence of A1AT main deficiency alleles from the newborn screening in Mazovia (Central Poland) region. Real-time PCR genotyping and A1AT blood concentration measurement by nephelometry were performed from the dry blood spots (DBS) samples of 658 newborns. Deficiency alleles PIZ i PIS were present in 28 children, respectively in 2.8% and 1.5%. Their existence corresponded with significantly lower A1AT blood concentration. Estimated incidence of deficiency alleles was 13,7/1000 (95% CI 5.8-21.5) for PI∗Z and 7.6/1000 (95% CI 1.7- 13.5) for PI∗S. The calculated prevalence for the main deficiency genotype ZZ was 1/5345. The study is on-going.
遗传性α-1抗胰蛋白酶缺乏症（A1ATD）被列为高加索人群中最常见的三种遗传疾病之一。它显著增加了进行性阻塞性肺病的风险，主要是慢性阻塞性肺疾病。波兰关于A1ATD患病率的数据稀缺，尚未开展过针对全体波兰人口的足够大样本量的代表性研究。在此，我们展示了波兰中部马佐夫舍地区新生儿筛查中A1AT主要缺陷等位基因发病率的初步数据。对658名新生儿的干血斑（DBS）样本进行了实时聚合酶链反应基因分型和用比浊法测量A1AT血浓度。缺陷等位基因PIZ和PIS分别在28名儿童中出现，比例分别为2.8%和1.5%。它们的存在与A1AT血浓度显著降低相对应。PI∗Z缺陷等位基因的估计发病率为13.7/1000（95%置信区间5.8 - 21.5），PI∗S为7.6/1000（95%置信区间1.7 - 13.5）。主要缺陷基因型ZZ的计算患病率为1/5345。该研究正在进行中。
