McDonald C F, Stewart P M, Blundell G, Crompton G K
Br Med J (Clin Res Ed). 1985 Dec 14;291(6510):1673-4. doi: 10.1136/bmj.291.6510.1673.
Severe lung disease and liver disease are not recognised features of the PiMZ phenotype, which is associated with alpha 1 antitrypsin deficiency. A 31 year old woman with this phenotype was found to have emphysema and complete heart block and showed evidence of hepatic cirrhosis, although her three sisters, all of whom had the same phenotype, were clinically normal. This case supports the possibility of a causal relation between the PiMZ phenotype and chronic lung and liver disease, but an association between alpha 1 antitrypsin deficiency and complete heart block could not be proved in this patient.
严重的肺部疾病和肝脏疾病并非与α1抗胰蛋白酶缺乏相关的PiMZ表型的典型特征。一名患有该表型的31岁女性被发现患有肺气肿和完全性心脏传导阻滞，并有肝硬化的迹象，尽管她的三个姐妹都具有相同的表型，但临床上均正常。该病例支持PiMZ表型与慢性肺和肝脏疾病之间存在因果关系的可能性，但在该患者中无法证实α1抗胰蛋白酶缺乏与完全性心脏传导阻滞之间存在关联。
