Luisetti M, Massi G, Massobrio M, Guarraci P, Menchicchi F M, Beccaria M, Balbi B
Istituto di Tisiologia e Malattie Respiratorie, IRCCS Policlinico San Matteo, Università di Pavia, Italy.
Respir Med. 1999 Mar;93(3):169-72. doi: 10.1016/s0954-6111(99)90003-3.
alpha 1-antitrypsin (AAT) deficiency is an inherited condition characterized by low serum levels of AAT and an increased risk of developing pulmonary emphysema. The disease occurs mainly in Caucasians, but Southern Europe, including Italy, is considered a low prevalence area. We developed a national program in Italy in order to improve our knowledge of the epidemiology of AAT deficiency and to establish a registry of the AAT-deficient individuals. The program had two phases: the first lasted 36 months, during which blood from coupons mailed by respiratory physicians from throughout the country, was isoelectrofocused by the Central Laboratory in Rome. The second phase started in February 1996, and the Registry was established. Up to August 1998, 151 subjects with AAT deficiency have been identified and 64 have been enrolled in the Registry. We believe that such a program plays a crucial role in identifying AAT deficiency in a country such as Italy, with low prevalence and low awareness of this rare condition.
α1-抗胰蛋白酶（AAT）缺乏症是一种遗传性疾病，其特征是血清AAT水平低，患肺气肿的风险增加。该疾病主要发生在白种人中，但包括意大利在内的南欧被认为是低患病率地区。我们在意大利开展了一项全国性计划，以增进我们对AAT缺乏症流行病学的了解，并建立AAT缺乏个体登记册。该计划分两个阶段：第一阶段持续36个月，在此期间，来自全国各地呼吸内科医生邮寄的血样由罗马的中央实验室进行等电聚焦。第二阶段于1996年2月开始，登记册得以建立。截至1998年8月，已确定151名AAT缺乏症患者，其中64名已被纳入登记册。我们认为，这样一个计划在像意大利这样对这种罕见疾病患病率低且认知度低的国家，对于识别AAT缺乏症起着至关重要的作用。
