哈萨克COPD患者α - 1抗胰蛋白酶缺乏症的病例发现

IF 2.3 Multidisciplinary Respiratory Medicine Pub Date : 2017-10-25 eCollection Date: 2017-01-01 DOI:10.1186/s40248-017-0104-5

Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon, Michele Zorzetto, Angelo Corsico, Ilaria Ferrarotti

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引用次数: 2

摘要

背景:α -1抗胰蛋白酶缺乏症(AATD)是慢性阻塞性肺疾病(COPD)患者的一种诊断不足的疾病。本研究的目的是使用干血斑标本筛查哈萨克COPD患者的AATD。方法:采用比浊法测定α - 1抗胰蛋白酶(AAT)浓度，采用PCR检测PiS和PiZ等位基因;等电聚焦用于确认可疑的基因型结果并检测罕见的AAT变异。结果:为此目的，招募了187名哈萨克斯坦COPD患者。采集血样作为干血斑。187份样本的基因分型结果为3份(1.6%)PI*MZ和1份(0.53%)PI*MS，表型分型结果为2份(1.1%)PiMI。哈萨克族COPD人群病理突变Z、S、I等位基因频率分别为0.8%、0.3%、0.5%。结论:本研究证实哈萨克族人群中存在AATD。这些结果支持在哈萨克斯坦等国家有针对性地筛查AAT缺乏症的一般概念，这些国家有大量COPD患者，护理人员对这种遗传疾病的认识较低。

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Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD.

Background: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens.

Methods: The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants.

Results: To this aim, 187 Kazakh subjects with COPD were recruited. Blood samples were collected as dried blood spot. Genotyping of 187 samples revealed 3 (1.6%) PI*MZ and 1 (0.53%) PI*MS, Phenotyping identified also two sample (1.1%) with phenotype PiMI. Allelic frequencies of pathological mutations Z, S and I resulted 0.8%, 0.3%, 0.5%, respectively, in COPD Kazakh population.

Conclusion: This study proved that AATD is present in the Kazakh population. These results support the general concept of targeted screening for AAT deficiency in countries like Kazakhstan, with a large population of COPD patients and low awareness among care-givers about this genetic condition.

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Multidisciplinary Respiratory Medicine Medicine-Pulmonary and Respiratory Medicine

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期刊介绍： Multidisciplinary Respiratory Medicine is the official journal of the Italian Respiratory Society - Società Italiana di Pneumologia (IRS/SIP). The journal publishes on all aspects of respiratory medicine and related fields, with a particular focus on interdisciplinary and translational research. The interdisciplinary nature of the journal provides a unique opportunity for researchers, clinicians and healthcare professionals across specialties to collaborate and exchange information. The journal provides a high visibility platform for the publication and dissemination of top quality original scientific articles, reviews and important position papers documenting clinical and experimental advances.