Department of Infectious Disease, The Second Xiangya Hospital of Central South University, Changsha, China.
J Coll Physicians Surg Pak. 2021 Oct;31(10):1231-1233. doi: 10.29271/jcpsp.2021.10.1231.
Wilson'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.
威尔逊病（WD）是一种常染色体隐性遗传疾病，影响铜代谢。ATP7B 基因突变与 WD 的发病风险密切相关；目前，在 WD 患者中已报道了 500 多种突变。分别位于外显子 8 和 12 的 Arg778Leu 和 Arg952Lys 突变在中国人群中高度流行。然而，由于 ATP7B 基因突变的极端变异以及疾病早期缺乏特异性临床症状，早期发现 WD 较为困难。同时，隐匿性乙型肝炎感染的早期阶段缺乏典型的临床表现，容易导致误诊为肝硬化。我们报告了一种新的 ATP7B 外显子 19 致病性突变，这可能有助于 WD 的早期遗传诊断和及时治疗。关键词：威尔逊病；基因突变；ATP7B；肝硬化；隐匿性乙型肝炎感染。
