A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase |
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| Authors: | Li Chen Xinhua Li Zhiyong Zheng Xujiang Lu Minghua Lin Chen Pan Jingfeng Liu |
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| Affiliation: | 1. Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China;2. Department of Hepatology, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China;3. Department of Pathology, Fuzhou General Hospital of People’s Liberation Army, Fuzhou, China |
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| Abstract: | 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. |
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| Keywords: | ATP7B, Copper transporting P-type ATPase WD, Wilson's disease |
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