在土耳其,对患有慢性阻塞性肺病,支气管切开症或喘的患者进行了一项阿尔法-1抗素缺乏症查研究
Seda Tural Onur1, Antonino Natoli2, Bettina Dreger2
1Department of Pulmonology, Yedikule Chest Diseases and Thoracic Surgery Education and Research Hospital, University of Health Sciences, Istanbul, Türkiye.
International journal of chronic obstructive pulmonary disease
|December 4, 2023
概括
在5%的土耳其患者中发现了α-1抗素缺乏症 (AATD) 突变,这些患者患有COPD等肺部疾病. 经常观察到罕见的AAT变异,突出显示AATD是呼吸系统疾病的遗传贡献者.
科学领域:
- 肺部医学 肺部医学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 阿尔法-1抗素缺乏症 (AATD) 是一种遗传性疾病,导致阿尔法-1抗素 (AAT) 水平较低.
- 它是慢性阻塞性肺病 (COPD),支气管切除和喘的重要遗传风险因素.
- 识别AATD对于早期诊断和肺部疾病的管理至关重要.
研究的目的:
- 在被诊断患有COPD,支气管切除或喘的土耳其患者中识别α-1抗素缺乏症 (AATD).
- 为了确定这个患者队伍中各种α-1抗素 (AAT) 变异的频率.
- 确定AATD作为土耳其人口肺部疾病的潜在遗传贡献者.
主要方法:
- 一项前性多中心研究,涉及1088名患有呼吸道或肝脏症状的成年患者,或有AATD家族病史.
- 收集的人口和临床数据,包括肺部诊断和呼吸系统症状.
- 分析了AAT血清水平,并对干燥的血液斑点进行了异位基因特异定型,以检测常见和罕见的AATD突变.
主要成果:
- 在评估的患者中,AATD突变在5% (51分之1088) 发现,主要是COPD患者.
- 15%的鉴定突变涉及Pi*S或Pi*Z等位基因.
- 很大一部分 (70.6%) 携带罕见的等位基因,包括Pi*M malton,Pi*I和Pi*P lowell,Pi*M/Z和Pi*M/M malton是最常见的异构配合. 十名患者患有两种缺陷等位基因的严重AATD.
结论:
- 在被研究的土耳其人群中,AATD突变是导致肺部疾病,特别是COPD和支气管病的相关遗传因素.
- 该研究强调了土耳其常见和罕见的AAT变体的流行情况.
- 这些发现强调了在患有相关呼吸道疾病的患者中对AATD进行查的重要性.
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