A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
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.
Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China.
Li
L
Chen
Department of Hepatology, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Xinhua
X
Li
Department of Pathology, Fuzhou General Hospital of People's Liberation Army, Fuzhou, China.
Zhiyong
Z
Zheng
Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China.
Xujiang
X
Lu
Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China.
Minghua
M
Lin
Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China.
Chen
C
Pan
Department of Hepatology, Infectious Disease Hospital, Fujian Medical University, Fuzhou, China. Electronic address: drjingfeng@yahoo.com.cn.
Jingfeng
J
Liu
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D027682:Cation Transport Proteins / Q000235:genetics*; D002570:Ceruloplasmin / Q000032:analysis; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017093:Liver Failure / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation
D027682:Cation Transport Proteins; D002570:Ceruloplasmin; D000469:Alkaline Phosphatase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
Genetics; Liver failure; Pathology; Wilson's disease