A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase

作者：Chen, Li; Li, Xinhua; Zheng, Zhiyong; Lu, Xujiang; Lin, Minghua; Pan, Chen; Liu, Jingfeng^*

来源：Gene, 2014, 538(1): 204-206.

DOI：10.1016/j.gene.2013.10.044

• Wilson's disease
• Liver failure
• Genetics
• Pathology

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.

• 出版日期2014-3-15
• 单位中山大学; 中国人民解放军南京军区福州总医院; 福建医科大学