Brantly M L, Paul L D, Miller B H, Falk R T, Wu M, Crystal R G
Pulmonary Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892.
Am Rev Respir Dis. 1988 Aug;138(2):327-36. doi: 10.1164/ajrccm/138.2.327.
Alpha-1-antitrypsin (alpha 1AT) deficiency is a hereditary disorder characterized in adults by a high risk for the development of severe destructive lung disease at an early age. The present study was designed to draw conclusions concerning the characteristics of a referral population of 124 patients with alpha 1AT deficiency and symptomatic emphysema. Typically, the alpha 1AT level was 30 mg/dl, and the alpha 1AT phenotype was almost always PiZZ. The individuals in this population were most often male, caucasian, and ex-smokers, and they had become dyspneic between 25 and 40 yr of age. Most routine blood tests were normal. The chest radiographs and ventilation-perfusion studies typically showed abnormalities with a lower zone distribution, and about one third of the study population had evidence suggestive of pulmonary hypertension. Lung function tests were typical for emphysema; the FEV1 and DLCO were the parameters most dramatically reduced, and the annual rate of decline of those parameters was greater than that of the general population. The cumulative probability of survival of this population indicated a significantly shortened lifespan with a mean survival of 16% at 60 yr of age compared with 85% for normal persons.
α1-抗胰蛋白酶（α1AT）缺乏症是一种遗传性疾病，在成年人中表现为早年发生严重破坏性肺病的风险较高。本研究旨在得出有关124例α1AT缺乏症和症状性肺气肿转诊患者群体特征的结论。通常，α1AT水平为30mg/dl，α1AT表型几乎总是PiZZ。该群体中的个体大多为男性、白种人且已戒烟，他们在25至40岁之间出现呼吸困难。大多数常规血液检查结果正常。胸部X光片和通气灌注研究通常显示下肺区分布异常，约三分之一的研究人群有提示肺动脉高压的证据。肺功能测试结果符合肺气肿特征；FEV1和DLCO是下降最为显著的参数，这些参数的年下降率高于普通人群。该群体的累积生存概率表明寿命显著缩短，60岁时的平均生存率为16%，而正常人为85%。
