Manowski Z, Silver M M, Roberts E A, Superina R A, Phillips M J
Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Mod Pathol. 1990 Nov;3(6):694-701.
Two cases of hereditary tyrosinemia presented with ascites and coagulopathy in infancy. Both patients underwent liver transplantation at the age of 25 and 36 mo, respectively. Both cases had normal liver function 37 and 24 mo later. The native liver in each case showed mixed micro- and macronodular cirrhosis with hepatocellular dysplasia, including both the large and small cell varieties. One of the subjects had also shown dysplasia in a prior liver biopsy. We compared the hepatic morphology with that from two other cases from our autopsy files. One of these (a female, 9 mo old) showed dysplasia, and the other (her male sibling, 4 yr old) had a liver cell carcinoma with lung metastases. These observations confirm prior reports that neoplastic transformation occurs early in the natural history of hereditary tyrosinemia despite meticulous dietary management and other supportive treatment. With the detection of liver cell dysplasia, efforts should be intensified to find an appropriate donor. Liver transplantation cures the hepatic disease and should be performed before malignancy develops.
两例遗传性酪氨酸血症患儿在婴儿期出现腹水和凝血功能障碍。两名患者分别在25个月和36个月时接受了肝移植。37个月和24个月后，两例患者的肝功能均恢复正常。每例患者的原肝脏均表现为混合性小结节和大结节性肝硬化伴肝细胞发育异常，包括大细胞和小细胞类型。其中一名患者在之前的肝活检中也显示有发育异常。我们将肝脏形态与尸检档案中的另外两例病例进行了比较。其中一例（一名9个月大的女性）显示有发育异常，另一例（她4岁的男性同胞）患有肝细胞癌并伴有肺转移。这些观察结果证实了之前的报道，即尽管进行了精心的饮食管理和其他支持性治疗，但遗传性酪氨酸血症自然病程中肿瘤转化仍会早期发生。随着肝细胞发育异常的发现，应加大力度寻找合适的供体。肝移植可治愈肝脏疾病，应在发生恶性肿瘤之前进行。
