Luisetti Maurizio, Ferrarotti Ilaria, Corda Luciano, Ottaviani Stefania, Gatta Nuccia, Tinelli Carmine, Bruletti Gisella, Bertella Enrica, Balestroni Gianluigi, Confalonieri Marco, Seebacher Christine, Iannacci Leonardo, Ferrari Simona, Salerno Francesco G, Mariani Frescesca, Carone Mauro, Balbi Bruno
Centro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia , Italy.
COPD. 2015 May;12 Suppl 1:52-7. doi: 10.3109/15412555.2015.1023393.
Alpha1-antitrypsin Deficiency (AATD) is a rare hereditary disorder with an estimated prevalence of about 1/5000 individuals in Italy. Deficient patients are at a higher risk of developing lung emphysema and chronic liver disease. The low estimated prevalence of AATD prompted the establishment of a registry with the aim of learning more about the natural history and the quality of care of these patients. The Italian registry for AATD was established in 1996. In this study, genetic and clinical findings of Italian AATD patients are presented. Moreover, we also evaluated the changes in health-related quality of life (HRQoL) in patients with COPD and AAT deficiency over a three-year period, in relation to augmentation therapy. In a period spanning 18 years (1996-2014) a total of 422 adult subjects with severe AATD were enrolled, namely 258 PIZZ, 74 PISZ, 4 PI*SS and 86 patients with at least one rare deficient allele. The 21.3% frequency for AATD patients with at least one deficient rare variant is the highest so far recorded in national registries of AATD. The registry data allow a detailed characterization of the natural course of the disease and the level of patient care, as well as confirm the usefulness of early AATD detection.
α1-抗胰蛋白酶缺乏症（AATD）是一种罕见的遗传性疾病，在意大利估计患病率约为1/5000。缺乏该蛋白的患者患肺气肿和慢性肝病的风险更高。AATD估计患病率较低，促使建立了一个登记处，目的是更多地了解这些患者的自然病史和护理质量。意大利AATD登记处成立于1996年。在本研究中，展示了意大利AATD患者的基因和临床研究结果。此外，我们还评估了慢性阻塞性肺疾病（COPD）和AAT缺乏症患者在三年期间与强化治疗相关的健康相关生活质量（HRQoL）变化。在1996年至2014年的18年期间，共招募了422名患有严重AATD的成年受试者，即258名PIZZ型、74名PISZ型、4名PI*SS型以及86名至少携带一种罕见缺陷等位基因的患者。AATD患者中至少有一种缺陷罕见变异的频率为21.3%，这是迄今为止在AATD国家登记处记录的最高频率。登记处数据有助于详细描述疾病的自然病程和患者护理水平，并证实早期检测AATD的有用性。
