CLINICAL-FEATURES AND HISTORY OF THE DESTRUCTIVE LUNG-DISEASE ASSOCIATED WITH ALPHA-1-ANTITRYPSIN DEFICIENCY OF ADULTS WITH PULMONARY SYMPTOMS
CLINICAL-FEATURES AND HISTORY OF THE DESTRUCTIVE LUNG-DISEASE ASSOCIATED WITH ALPHA-1-ANTITRYPSIN DEFICIENCY OF ADULTS WITH PULMONARY SYMPTOMS
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DOI：
10.1164/ajrccm/138.2.327
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发表时间：
1988-08-01
期刊：
影响因子：
--
通讯作者：
CRYSTAL, RG
中科院分区：
文献类型：
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作者：
BRANTLY, ML;PAUL, LD;CRYSTAL, RG
α-1-抗胰蛋白酶（α 1AT）缺乏症是一种遗传性疾病，其特征在于成年人在早期发展为严重破坏性肺病的高风险。本研究旨在得出关于124名患有α 1AT缺乏和症状性肺气肿的患者的转诊人群的特征的结论。典型地，α 1AT水平为30 mg/dl，并且α 1AT表型几乎总是PiZZ。在这一人群中的个人最常见的是男性，白人，和前吸烟者，他们已经成为呼吸困难之间的25和40岁。大多数常规血液检查正常。胸片和通气-灌注研究通常显示低区分布的异常，约三分之一的研究人群有提示肺动脉高压的证据。肺功能检查是肺气肿的典型表现; FEV 1和DLCO是降低最显著的参数，这些参数的年下降率大于一般人群。该人群的累积生存概率表明，60岁时的平均生存率为16%，而正常人为85%，寿命显著缩短。
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.