• Yongfang Jiang, Mengxuan Chen, Yelin Ruan, Jing Ma, and Naiping Li.
• Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China.
• J Coll Physicians Surg Pak. 2021 Oct 1; 31 (10): 1231-1233.

AbstractWilson's disease (WD) is an autosomal recessive disorder that affects copper metabolism. Mutations of the ATP7B 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 difficult due to the extreme variations in mutations of ATP7B, and the lack of specific 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. Key Words: Wilson's disease, Gene mutation, ATP7B, Cirrhosis, Occult hepatitis B infection.

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