Torres-Durán María, López-Campos José Luis, Rodríguez-Hermosa Juan Luis, Esquinas Cristina, Martínez-González Cristina, Hernández-Pérez José María, Rodríguez Carlota, Bustamante Ana, Casas-Maldonado Francisco, Barrecheguren Miriam, González Cruz, Miravitlles Marc
Servicio de Neumología, Hospital Álvaro Cunqueiro, NeumoVigo I+i Research Group, IIS Galicia Sur, Vigo, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.
ERJ Open Res. 2022 Sep 26;8(3). doi: 10.1183/23120541.00213-2022. eCollection 2022 Jul.
The Spanish registry of α-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is frequent in Spain.
Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PIZZ, PISZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PIZZ and PISZ patients.
409 patients were included (53.8% men) with a mean±sd age of 53.5±15.9 years. Genotypes were PIZZ in 181 (44.7%), PISZ in 163 (40.2%), PISS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 chronic obstructive pulmonary disease (43.5%), 163 emphysema (40.5%) and 83 bronchiectasis (20.6%). Patients with the PISZ genotype were younger, more frequently non-index cases and had a lower frequency of respiratory diseases except asthma compared with PIZZ patients. Among patients with respiratory diseases, PISZ individuals were significantly older both at onset of symptoms and at diagnosis; only asthma was more frequent in PISZ than in PIZZ individuals. Twelve PISZ patients (15.4%) received augmentation therapy compared with 94 PIZZ patients (66.2%; p<0.001).
There is a high prevalence of PISZ in Spain. Patients with the PISZ genotype were older at symptom onset and diagnosis and had less severe lung disease compared with PIZZ patients. The prevalence of asthma was higher in PISZ, and up to 15% of PI*SZ patients received augmentation therapy.
纳入欧洲α-1研究协作组（EARCO）的西班牙α-抗胰蛋白酶缺乏症（AATD）登记系统提供了患者特征信息，尤其是携带PI*SZ基因型的患者信息，该基因型在西班牙较为常见。
纳入2020年2月1日至2022年2月1日期间确诊为严重AATD的个体，其蛋白酶抑制剂（PI）基因型为PIZZ、PISZ及其他罕见缺陷变异型。分析重点为比较PIZZ和PISZ患者的特征。
共纳入409例患者（53.8%为男性），平均年龄±标准差为53.5±15.9岁。基因型分布为：PIZZ 181例（44.7%），PISZ 163例（40.2%），PISS 29例（7.2%），其他32例（7.9%）。271例（67.4%）患有肺部疾病：175例慢性阻塞性肺疾病（43.5%），163例肺气肿（40.5%），83例支气管扩张（20.6%）。与PIZZ患者相比，PISZ基因型患者更年轻，更多为非索引病例，除哮喘外呼吸系统疾病发生率较低。在患有呼吸系统疾病的患者中，PISZ个体症状出现和诊断时年龄均显著更大；只有哮喘在PISZ个体中比在PIZZ个体中更常见。12例PISZ患者（15.4%）接受了增强治疗，而PIZZ患者为94例（66.2%；p<0.001）。
PISZ在西班牙的患病率较高。与PIZZ患者相比，PISZ基因型患者症状出现和诊断时年龄更大，肺部疾病较轻。PISZ中哮喘患病率较高，高达15%的PI*SZ患者接受了增强治疗。
