伴有异常关联的纯合子α1抗胰蛋白酶缺乏症：一例报告
Homozygous alpha1 antitrypsin deficiency with unusual associations: a case report.
作者信息
Young R C, Headings V E, Bose S, Hackney R L
出版信息
J Natl Med Assoc. 1978 Feb;70(2):117-20.
Abstract
The rare association of protease inhibitor deficiency (Pi(zz) genotype) in a black American with chronic, obstructive pulmonary disease due to asthmatic bronchitis, rather than basal pan lobular emphysema, is presented. The late onset of symptoms, despite environmental exposures, is also unusual in this homozygote, as is his ethnic background.
摘要
本文介绍了一名患有哮喘性支气管炎所致慢性阻塞性肺疾病而非基底小叶全段肺气肿的美国黑人，其罕见地存在蛋白酶抑制剂缺乏（Pi(zz)基因型）。尽管有环境暴露因素，但该纯合子患者症状出现较晚，其种族背景也不常见。
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Homozygous alpha1 antitrypsin deficiency with unusual associations: a case report.伴有异常关联的纯合子α1抗胰蛋白酶缺乏症：一例报告
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The pattern of lung disease associated with alpha antitrypsin deficiency.与α-抗胰蛋白酶缺乏相关的肺部疾病模式。
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6
Heterozygous and homozygous alpha1-antitrypsin deficiency in patients with pulmonary emphysema.肺气肿患者中的杂合子和纯合子α1-抗胰蛋白酶缺乏症。
N Engl J Med. 1969 Aug 7;281(6):279-84. doi: 10.1056/NEJM196908072810601.
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Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder.与α-1抗胰蛋白酶缺乏症相关的肝硬化：一种先前未被认识的遗传性疾病。
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Pathophysiology of hereditary emphysema.遗传性肺气肿的病理生理学
Ann Intern Med. 1971 May;74(5):672-80. doi: 10.7326/0003-4819-74-5-672.
9
Clinical, epidemiologic, and pulmonary function studies in alpha,-antitrypsin-deficient subjects of Pi Z type.Pi Z型α1-抗胰蛋白酶缺乏症患者的临床、流行病学及肺功能研究。
Am Rev Respir Dis. 1976 Nov;114(5):945-53. doi: 10.1164/arrd.1976.114.5.945.
10
Antitrypsin phenotypes in St. Louis.圣路易斯的抗胰蛋白酶表型
JAMA. 1975 Feb 10;231(6):609-12.
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