Palmer P E, Wolfe H J, Dayal Y, Gang D L
Am J Surg Pathol. 1978 Sep;2(3):275-81. doi: 10.1097/00000478-197809000-00004.
Eight cases of liver disease associated with alpha-1-antitrypsin deficiency are described. Six of the cases, including the only childhood case, showed no evidence of lung disease. An occult but variable clinical course is defined in this disorder. A spectrum in the severity of tissue change was noted, and in some instances, extensive liver disease was correlated with relatively minor derangement in liver function. While this form of liver disease is uncommon, it should be included in the differential diagnosis of adult liver disease. Screening for alpha-1-antitrypsin globules in periodic acid-Schiff stained liver tissue sections should be considered in certain cases of cryptogenic liver disease in adults, particularly when advanced disease presents suddenly, where micronodular (portal) cirrhosis is unrelated to excessive alcohol use, or where tissue changes exceed those anticipated from serum biochemical abnormalities. In most of these cases, tissue findings from liver biopsy or autopsy, rather than clinical suspicion, led to the diagnosis. The availability of a simple and reliable immunoperoxidase technique, applicable to routinely processed tissue samples, allowed for rapid and specific diagnosis in all cases. This immunocytochemical method has proven its usefulness in the prospective and retrospective tissue diagnosis of alpha-1-antitrypsin deficiency and associated liver disease.
本文描述了8例与α1-抗胰蛋白酶缺乏相关的肝病病例。其中6例，包括唯一的儿童病例，未显示出肺部疾病的迹象。这种疾病具有隐匿但多变的临床病程。观察到组织变化的严重程度存在差异，在某些情况下，广泛的肝脏疾病与相对轻微的肝功能紊乱相关。虽然这种形式的肝病并不常见，但在成人肝病的鉴别诊断中应予以考虑。对于成人不明原因肝病的某些病例，尤其是在晚期疾病突然出现、小结节性（门脉性）肝硬化与过量饮酒无关或组织变化超过血清生化异常预期的情况下，应考虑在高碘酸-希夫染色的肝组织切片中筛查α1-抗胰蛋白酶小球。在大多数这些病例中，肝活检或尸检的组织学发现而非临床怀疑导致了诊断。一种适用于常规处理组织样本的简单可靠的免疫过氧化物酶技术，能够在所有病例中实现快速、特异性诊断。这种免疫细胞化学方法已在前瞻性和回顾性组织诊断α1-抗胰蛋白酶缺乏及相关肝病中证明了其有用性。
