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Gene. 2014 Mar 15;538(1):204-6. doi: 10.1016/j.gene.2013.10.044. Epub 2013 Oct 27.

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

Author information

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.
4
Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China. Electronic address: drjingfeng@yahoo.com.cn.

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.

KEYWORDS:

Genetics; Liver failure; Pathology; Wilson's disease

PMID:
24476933
DOI:
10.1016/j.gene.2013.10.044
[Indexed for MEDLINE]

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