Banner B F, Karamitsios N, Smith L, Bonkovsky H L
Department of Pathology, Liver-Biliary-Pancreatic Center, University of Massachusetts Medical Center, Worcester 01655, USA.
Am J Gastroenterol. 1998 Sep;93(9):1541-5. doi: 10.1111/j.1572-0241.1998.00478.x.
A middle-aged white man of Scotch-Irish ancestry, being treated for chronic hepatitis C, was found to be heterozygous for alpha1-antitrypsin deficiency (PiMZ phenotype) after diagnostic PAS-positive, diastase-resistant globules were detected in a liver biopsy. The globules had not been present in a biopsy obtained 4 yr previously. He was also found to be heterozygous for the cys282tyr mutation of the HFE gene, which is the chief cause of HLA-linked hereditary hemochromatosis (HHC). His liver disease progressed over 4 yr from mild hepatitis to moderate hepatitis with cirrhosis despite therapy with interferon-alpha, and phlebotomy plus interferon. These conditions appeared to have synergistic effects, with the chronic viral hepatitis unmasking the alpha1AT deficiency, and the alpha1AT deficiency (and possibly the heterozygosity for HHC), exacerbating the course of the hepatitis C.
一名具有苏格兰-爱尔兰血统的中年白人男性，正在接受慢性丙型肝炎治疗，在肝活检中检测到诊断性的过碘酸雪夫反应（PAS）阳性、抗淀粉酶球蛋白后，发现其α1-抗胰蛋白酶缺乏症为杂合子（PiMZ表型）。这些球蛋白在4年前获取的活检中并不存在。他还被发现HFE基因的cys282tyr突变呈杂合子状态，这是与HLA相关的遗传性血色素沉着症（HHC）的主要病因。尽管接受了α干扰素治疗、放血疗法加干扰素治疗，但他的肝病在4年中从轻度肝炎进展为伴有肝硬化的中度肝炎。这些情况似乎具有协同作用，慢性病毒性肝炎使α1AT缺乏症显现出来，而α1AT缺乏症（可能还有HHC杂合状态）则加剧了丙型肝炎的病程。
