Servicio de Bioquímica, Hospital Universitario Vall d’Hebrón, Paseo Valle Hebrón s/n, Barcelona 08035, Spain.
Ther Adv Respir Dis. 2012 Apr;6(2):79-85. doi: 10.1177/1753465811434320. Epub 2012 Jan 30.
Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PIZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT variants, which are called 'rare' due to their low prevalence. The retrospective revision of 3511 α1-AT deficiency determinations performed in Barcelona from 1998 to 2010 detected 1.6% of cases with rare α1-AT alleles, a rate similar to those reported in other European studies. Among these variants, PII and PIMmalton represented 54% of cases. Hence, the so-called 'rare' α1-AT alleles may not be rare as has been assumed. It would be of interest to implement simple allele-specific molecular biology methods to study the most prevalent rare variants in each region. Augmentation therapy is recommended in patients with emphysema and PIZZ genotype, but there is little evidence regarding the implications of rare variants on therapy.
α1-抗胰蛋白酶（α1-AT）缺乏症主要在慢性阻塞性肺疾病（COPD）的诊断过程中进行评估。大约 95%的严重α1-AT 缺乏症患者携带 PIZZ 基因型。对于其他因低流行率而被称为“罕见”的α1-AT 变体的流行病学知之甚少。对 1998 年至 2010 年在巴塞罗那进行的 3511 项α1-AT 缺乏症测定的回顾性修订发现，有 1.6%的病例存在罕见的α1-AT 等位基因，这一比例与其他欧洲研究报告的相似。在这些变体中，PII 和 PIMmalton 占病例的 54%。因此，所谓的“罕见”α1-AT 等位基因可能并不像人们想象的那么罕见。在每个地区实施简单的等位基因特异性分子生物学方法来研究最常见的罕见变体将是有趣的。建议对肺气肿和 PIZZ 基因型的患者进行增强治疗，但关于罕见变体对治疗的影响的证据很少。
