哈萨克族慢性阻塞性肺疾病患者α1-抗胰蛋白酶缺乏症的病例筛查
Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD.
作者信息
Zhumagaliyeva Ardak, Ottaviani Stefania, Greulich Timm, Gorrini Marina, Vogelmeier Claus, Karazhanova Ludmila, Nurgazina Gulmira, DeSilvestri Annalisa, Kotke Victor, Barzon Valentina, Zorzetto Michele, Corsico Angelo, Ferrarotti Ilaria
机构信息
Semey State Medical University, Semey, Kazakhstan.
Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Piazza Golgi 1, 27100 Pavia, Italy.
出版信息
Multidiscip Respir Med. 2017 Oct 25;12:23. doi: 10.1186/s40248-017-0104-5. eCollection 2017.
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%) PIMZ and 1 (0.53%) PIMS, 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.
背景
α-1抗胰蛋白酶缺乏症（AATD）在慢性阻塞性肺疾病（COPD）患者中是一种诊断不足的病症。本研究的目的是使用干血斑标本对哈萨克族COPD患者进行AATD筛查。
方法
采用散射比浊法测定α1抗胰蛋白酶（AAT）浓度，用聚合酶链反应（PCR）检测PiS和PiZ等位基因；采用等电聚焦法确认可疑的基因型结果并检测罕见的AAT变异体。
结果
为此，招募了187名哈萨克族COPD患者。采集血样制成干血斑。对187份样本进行基因分型，发现3例（1.6%）PIMZ和1例（0.53%）PIMS，表型分析还发现2例（1.1%）表型为PiMI的样本。在哈萨克族COPD人群中，病理性突变Z、S和I的等位基因频率分别为0.8%、0.3%、0.5%。
结论
本研究证明哈萨克族人群中存在AATD。这些结果支持了在哈萨克斯坦等国家对AAT缺乏症进行靶向筛查的总体概念，这些国家有大量COPD患者，且医护人员对这种遗传病症的认识较低。
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