Kok K F, Hoevenaars B, Waanders E, Drenth J P H
Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, the Netherlands.
Neth J Med. 2008 Sep;66(8):348-50.
Wilson's disease (WD) is a disorder of copper metabolism leading to copper accumulation in the liver and in extrahepatic organs, such as brain and cornea. We present a patient with liver disease who did not fulfil the biochemical criteria for WD. Mutational analysis was necessary to make the diagnosis and show a new mutation. Our case supports the use of mutation analysis in cases with unclear liver disease and suggests that the spectrum of WD is broader than currently assumed.
威尔逊病（WD）是一种铜代谢紊乱疾病，会导致铜在肝脏以及脑和角膜等肝外器官中蓄积。我们报告了一名患有肝病但不符合WD生化标准的患者。进行突变分析对于做出诊断并发现一种新突变是必要的。我们的病例支持在肝病情况不明的病例中使用突变分析，并表明WD的范围比目前所认为的更广。
