Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China.
Department of Hepatology, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Gene. 2014 Mar 15;538(1):204-6. doi: 10.1016/j.gene.2013.10.044. Epub 2013 Oct 27.
Wilson's disease (WD) is a rare disorder of copper metabolism resulting in accumulation of copper in liver and other organs. We present a liver failure patient, who was misdiagnosed for two years, with normal ceruloplasmin and low serum alkaline phosphatase. Molecular testing revealed a novel p.Ala982Thr mutation within ATP7B gene. The pathology of liver sample showed a large amount of copper deposition in the hepatocytes and confirmed the diagnosis of WD. Our data highlighted the importance of molecular testing in the early diagnosis of atypical WD.
威尔逊病（WD）是一种罕见的铜代谢紊乱疾病，导致铜在肝脏和其他器官中积累。我们报告了一位肝功能衰竭患者，他被误诊了两年，其铜蓝蛋白正常，血清碱性磷酸酶水平低。分子检测显示 ATP7B 基因中存在一个新的 p.Ala982Thr 突变。肝组织病理学检查显示大量铜在肝细胞内沉积，从而确诊 WD。我们的数据强调了分子检测在不典型 WD 的早期诊断中的重要性。
