Aydinli Musa, Harmanci Ozgur, Ersoy Osman, Iskit Arzu T, Ozcebe Osman, Abbasoglu Osman, Bayraktar Yusuf
Gastroenterology Department, Hacettepe University Faculty of Medicine, Ankara, Turkey.
J Natl Med Assoc. 2006 Dec;98(12):1989-91.
We report two atypical cases of Wilson's disease. The first case is a 22-year-old male patient with a history of disease for 15 years and diagnosed as Wilson's disease upon investigations. Alpha-fetoprotein level was found elevated and computed tomography showed a 3.5-cm liver mass. Hepatocellular carcinoma was diagnosed. Radiofrequency ablation and liver transplantation were performed successfully. The second case is a 24-year-old female patient who presented with fulminant hepatitis. Urinary copper excretion and ceruloplasmin levels were suggestive of Wilson's disease. Despite chelation therapy, no improvement was observed. Plasma exchange therapy was performed for seven days. Her clinical status improved, and transplantation was no longer needed. To conclude, although hepatoma is rarely seen in Wilson's disease, patients should be examined regularly to diagnose it in a treatable stage. Removal of copper and toxic metabolites with plasma exchange therapy may be a way of treatment for fulminant hepatitis associated with Wilson's disease.
我们报告两例肝豆状核变性的非典型病例。第一例是一名22岁男性患者,患病15年,经检查诊断为肝豆状核变性。发现甲胎蛋白水平升高,计算机断层扫描显示肝脏有一个3.5厘米的肿块。诊断为肝细胞癌。成功进行了射频消融和肝移植。第二例是一名24岁女性患者,表现为暴发性肝炎。尿铜排泄和铜蓝蛋白水平提示肝豆状核变性。尽管进行了螯合治疗,但未见改善。进行了7天的血浆置换治疗。她的临床状况有所改善,不再需要移植。总之,虽然肝豆状核变性很少见肝癌,但应定期对患者进行检查以便在可治疗阶段进行诊断。通过血浆置换疗法去除铜和有毒代谢物可能是治疗与肝豆状核变性相关的暴发性肝炎的一种方法。