Aiello M, Frizzelli A, Pisi R, Fantin A, Ghirardini M, Marchi L, Ferrarotti I, Bertorelli G, Percesepe A, Chetta A
Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, University of Parma, Parma, Italy.
Department of Internal Medicine and Therapeutics, Pneumology Unit, Center for the Diagnosis of Inherited Alpha1-Antitrypsin Deficiency, University of Pavia, Pavia, Italy.
J Asthma. 2022 Jan;59(1):23-30. doi: 10.1080/02770903.2020.1827421. Epub 2020 Oct 19.
: Although the etiology and disease mechanisms of asthma and alpha-1 antitrypsin deficiency (AATD) are distinct, several reports indicate that asthma is common in AATD patients, however the relationships between asthma and AATD are poorly described in the literature.: The aim of the study was to investigate in a cohort of outpatients affected by mild to moderate asthma the clinical features that may differentiate asthmatic patients with and without mutation on SERPINA1 gene.: Seven hundred thirty-five asthmatic outpatients underwent quantitative analysis of the serum level of alpha-1antitrypsin. According to the literature only sixty-seven out of seven hundred thirty-five asthmatic patients were submitted to genetic analysis to identify AATD and non-AATD subjects. Fifty-eight patients were studied. Clinical and functional data, including lung function, atopy and bronchial hyperactivity, were recorded.: The fifty-eight asthmatic patients were divided in AATD patients ( = 22) and non AATD patients ( = 36), according to genotype. The presence of atopy was significantly higher in patients with AATD than in those without AATD (91% vs. 64%; = 0.031). AATD patients reported allergic manifestations more than non AATD patients (77% vs. 47%; = 0.030).: Our study shows that the presence of atopy in asthmatic patients with AATD is significantly higher than in asthmatic patients without gene mutation. In addition, a higher percentage of AATD patients self-reported allergic manifestations. No significant differences in respiratory symptoms, physical examination, disease severity or inflammation markers were found between AATD patients and non AATD patients.
虽然哮喘和α-1抗胰蛋白酶缺乏症（AATD）的病因和发病机制不同，但有几份报告表明哮喘在AATD患者中很常见，然而哮喘与AATD之间的关系在文献中描述甚少。本研究的目的是在一组轻至中度哮喘门诊患者中调查可能区分SERPINA1基因突变型和未突变型哮喘患者的临床特征。735名哮喘门诊患者接受了α-1抗胰蛋白酶血清水平的定量分析。根据文献，735名哮喘患者中只有67名接受了基因分析以确定AATD和非AATD受试者。对58名患者进行了研究。记录了临床和功能数据，包括肺功能、特应性和支气管高反应性。根据基因型，58名哮喘患者分为AATD患者（n = 22）和非AATD患者（n = 36）。AATD患者的特应性发生率显著高于非AATD患者（91%对64%；P = 0.031）。AATD患者报告的过敏表现多于非AATD患者（77%对47%；P = 0.030）。我们的研究表明，AATD哮喘患者的特应性发生率显著高于无基因突变的哮喘患者。此外，更高比例的AATD患者自述有过敏表现。AATD患者和非AATD患者在呼吸道症状、体格检查、疾病严重程度或炎症标志物方面未发现显著差异。
