A Special Case of Cirrhosis with a Novel ATP7B Mutation and Occult Chronic HBV Infection | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2021]

Author(s):

1. Yongfang Jiang: Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China

2. Mengxuan Chen: Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China

3. Yelin Ruan: Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China

4. Jing Ma: Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China

5. Naiping Li: Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China

Abstract:

Wilson's disease (WD) is an autosomal recessive disorder that a ects copper metabolism. Mutations of thAeTP7B gene have been found to be strongly associated with a risk of developing WD; and at present, more than 500 mutations have been reported in WD patients. The Arg778Leu and Arg952Lys mutations in exons 8 and 12, respectively, are highly prevalent in the Chinese population. However, early detection of WD is di cult due to the extreme variations in mutations AofTP7B, and the lack of speci c clinical symptoms during the early stages of the disease. Meanwhile, the early stage of occult hepatitis B infection lacks typical clinical manifestations, which easily leads to it being misdiagnosed as liver cirrhosis. We report a new pathogenic exon 19 mutation of ATP7B which can potentially contribute to the early genetic diagnosis and prompt treatment of WD.

Page(s): 1231-1233

DOI: 10.29271/jcpsp.2021.10.1231

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 31, Issue: 10, Year: 2021

Keywords:

Cirrhosis , ATP7B , Occult hepatitis B Infection , Wilsons disease , Gene Mutation

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