肝豆状核变性合并肝细胞癌1例报告
DOI: 10.3969/j.issn.1001-5256.2022.05.028
伦理学声明:本例报告已获得患者知情同意。
利益冲突声明:所有作者均声明不存在利益冲突。
作者贡献声明:罗绍轩负责课题设计, 资料分析, 撰写论文; 李娅参与收集数据, 修改论文; 徐峰负责拟定写作思路, 指导撰写文章并最后定稿。
-
[1] LO C, BANDMANN O. Epidemiology and introduction to the clinical presentation of Wilson disease[J]. Handb Clin Neurol, 2017, 142: 7-17. DOI: 10.1016/B978-0-444-63625-6.00002-1. [2] XIONG F, KUAI Y, XIE SY, et al. The necessity for hepatolenticular degeneration screening among children based on the different results of two cases[J/CD]. Chin J Liver Dis(Electronic Edition), 2021, 13(2): 69-72. DOI: 10.3969/j.issn.1674-7380.2021.02.012.熊复, 蒯钰, 谢双宇, 等. 从2例患儿的不同结局探讨儿童肝豆状核变性筛查的必要性[J/CD]. 中国肝脏病杂志(电子版), 2021, 13(2): 69-72. DOI: 10.3969/j.issn.1674-7380.2021.02.012. [3] European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease[J]. J Hepatol, 2012, 56(3): 671-685. DOI: 10.1016/j.jhep.2011.11.007. [4] LIANG C, BAI L, ZHENG SJ. Research advances in the genotype—phenotype correlation, diagnosis, treatment, and screening of Wilson's disease[J]. J Clin Hepatol, 2019, 35(9): 2116-2119. DOI: 10.3969/j.issn.1001-5256.2019.09.052.梁晨, 白丽, 郑素军. Wilson病基因型-表型关系、诊断、治疗及筛查研究进展[J]. 临床肝胆病杂志, 2019, 35(9): 2116-2119. DOI: 10.3969/j.issn.1001-5256.2019.09.052. [5] CHENG N, WANG H, WU W, et al. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease[J]. Clin Genet, 2017, 92(1): 69-79. DOI: 10.1111/cge.12951. [6] LI H, LIU L, LI Y, et al. Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods[J]. Medicine (Baltimore), 2018, 97(27): e11405. DOI: 10.1097/MD.0000000000011405. [7] WILKINSON ML, PORTMANN B, WILLIAMS R. Wilson's disease and hepatocellular carcinoma: Possible protective role of copper[J]. Gut, 1983, 24(8): 767-771. DOI: 10.1136/gut.24.8.767. [8] MASAKI T, SHIRATORI Y, RENGIFO W, et al. Hepatocellular carcinoma cell cycle: Study of Long-Evans cinnamon rats[J]. Hepatology, 2000, 32(4 Pt 1): 711-720. DOI: 10.1053/jhep.2000.17705. [9] REYES CV. Hepatocellular carcinoma in wilson disease-related liver cirrhosis[J]. Gastroenterol Hepatol (N Y), 2008, 4(6): 435-437. [10] FENG W, YE F, XUE W, et al. Copper regulation of hypoxia-inducible factor-1 activity[J]. Mol Pharmacol, 2009, 75(1): 174-182. DOI: 10.1124/mol.108.051516. [11] MARTIN F, LINDEN T, KATSCHINSKI DM, et al. Copper-dependent activation of hypoxia-inducible factor (HIF)-1: Implications for ceruloplasmin regulation[J]. Blood, 2005, 105(12): 4613-4619. DOI: 10.1182/blood-2004-10-3980. [12] GÉRARD C, BORDELEAU LJ, BARRALET J, et al. The stimulation of angiogenesis and collagen deposition by copper[J]. Biomaterials, 2010, 31(5): 824-831. DOI: 10.1016/j.biomaterials.2009.10.009. [13] LINDER MC. The relationship of copper to DNA damage and damage prevention in humans[J]. Mutat Res, 2012, 733(1-2): 83-91. DOI: 10.1016/j.mrfmmm.2012.03.010. [14] BRUHA R, MARECEK Z, POSPISILOVA L, et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation[J]. Liver Int, 2011, 31(1): 83-91. DOI: 10.1111/j.1478-3231.2010.02354.x. [15] PFEIFFENBERGER J, MOGLER C, GOTTHARDT DN, et al. Hepatobiliary malignancies in Wilson disease[J]. Liver Int, 2015, 35(5): 1615-1622. DOI: 10.1111/liv.12727. [16] ZHU XS, LIU WC. The progress in epidemiology and risk factors of primary liver cancer worldwide[J]. J Modern Oncol, 2018, 26(14): 2297-2301. DOI: 10.3969/j.issn.1672-4992.2018.14.039.朱笑生, 刘文超. 原发性肝癌全球流行情况和危险因素的新进展[J]. 现代肿瘤医学, 2018, 26(14): 2297-2301. DOI: 10.3969/j.issn.1672-4992.2018.14.039. [17] van MEER S, de MAN RA, van den BERG AP, et al. No increased risk of hepatocellular carcinoma in cirrhosis due to Wilson disease during long-term follow-up[J]. J Gastroenterol Hepatol, 2015, 30(3): 535-539. DOI: 10.1111/jgh.12716. [18] LI X, CAI J, XU YW, et al. A case of hepatolenticuIar degeneration with hepatocellular carcinoma[J]. J Clin Hepatol, 2018, 34(9): 1967-1971. DOI: 10.3969/j.issn.1001-5256.2018.09.027.李响, 蔡洁, 徐钰雯, 等. 肝豆状核变性合并肝细胞癌1例报告[J]. 临床肝胆病杂志, 2018, 34(9): 1967-1971. DOI: 10.3969/j.issn.1001-5256.2018.09.027. [19] Chinese Society of Parkinson's Disease and Movement Disorders, Chinese Society of Neurogenetics. Guidelines for diagnosis and treatmof hepatolenticular degeneration[J]. Chin J Neurol, 2008, 41(8): 566-569. DOI: 10.3321/j.issn:1006-7876.2008.08.022.中华医学会神经病学分会帕金森病及运动障碍学组, 中华医学会神经病学分会神经遗传病学组. 肝豆状核变性的诊断与治疗指南[J]. 中华神经科杂志, 2008, 41(8): 566-569. DOI: 10.3321/j.issn:1006-7876.2008.08.022. [20] Chinese Society of Neurogenetics. Chinese guidelines for diagnosis and treatment of Wilson's disease 2021[J]. Chin J Neurol, 2021, 54(4): 310-319. DOI: 10.3760/cma.j.cn113694-20200826-00661.中华医学会神经病学分会神经遗传病学组. 中国肝豆状核变性诊治指南2021[J]. 中华神经科杂志, 2021, 54(4): 310-319. DOI: 10.3760/cma.j.cn113694-20200826-00661. [21] KUMAGI T, HORIIKE N, ABE M, et al. Small hepatocellular carcinoma associated with Wilson's disease[J]. Intern Med, 2005, 44(5): 439-443. DOI: 10.2169/internalmedicine.44.439