一个大家庭中的α-1-抗胰蛋白酶缺乏症
Alpha-1-antitrypsin deficiency in a large sibship.
作者信息
Apprill M, North M L, Mirhom R, Weitzenblum E
机构信息
Laboratoire d'Explorations Fonctionnelles Respiratoires, Strasbourg, France.
出版信息
Respiration. 1990;57(5):310-2. doi: 10.1159/000195862.
PMID:2284507
Abstract
We studied alpha 1-antitrypsin deficiency in a large family of 10 siblings: 3 subjects had PiZZ phenotype, but only 1 had emphysema; 2 subjects had no respiratory complaint. The patient with emphysema was a heavy smoker. According to the literature, this case suggests that, in PiZZ phenotype, emphysema appears earlier and is more severe if the patients smoke.
摘要
我们在一个由10个兄弟姐妹组成的大家庭中研究了α1抗胰蛋白酶缺乏症：3名受试者具有PiZZ表型，但只有1人患有肺气肿；2名受试者没有呼吸系统疾病主诉。患有肺气肿的患者是重度吸烟者。根据文献，该病例表明，在PiZZ表型中，如果患者吸烟，肺气肿会出现得更早且更严重。
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