Lee Jonathan, Yoshida Eric M, Mattman Andre, Marquez Vladimir, Bukhari Hussam, Farnell David, Yang Hui-Min
Department of Pathology and Laboratory Medicine, Vancouver General Hospital, Vancouver, BC, Canada.
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
Hepatol Forum. 2021 Jan 8;2(1):31-33. doi: 10.14744/hf.2020.2020.0013. eCollection 2021 Jan.
Alpha-1 antitrypsin deficiency is an autosomal recessive disease most commonly caused by misfolding of the Alpha-1-antitrypsin protein, which prevents its release from hepatocytes into the systemic circulation. This results in increased lifetime risk of liver and lung disease. Due to its variable penetrance, presentation and natural history, patients with alpha-1 antitrypsin deficiency are often underdiagnosed. In this report, we present two cases of alpha-1 antitrypsin deficiency in deceased-donor liver transplant allografts diagnosed post-transplant. There is currently no known adverse outcome directly linked to alpha-1 antitrypsin deficiency in the immediate post-transplant follow-up period. Thus, these allografts should not be excluded from transplantation.
α-1抗胰蛋白酶缺乏症是一种常染色体隐性疾病，最常见的病因是α-1抗胰蛋白酶蛋白错误折叠，这阻止了它从肝细胞释放到体循环中。这导致肝脏和肺部疾病的终生风险增加。由于其可变的外显率、临床表现和自然病史，α-1抗胰蛋白酶缺乏症患者常常被漏诊。在本报告中，我们介绍了两例在移植后诊断出的已故供体肝移植同种异体移植物中α-1抗胰蛋白酶缺乏症的病例。目前在移植后的随访期内，尚无已知的与α-1抗胰蛋白酶缺乏症直接相关的不良后果。因此，这些同种异体移植物不应被排除在移植之外。
