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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 39 Issue 4
Apr.  2023
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Article Contents

A case of hepatolenticular degeneration caused by ATP7B p.Ser1369Tyrfs*24 mutation

DOI: 10.3969/j.issn.1001-5256.2023.04.021
Research funding:

Natural Science Foundation of Guangxi Province (2018JJB140029);

Guangxi Medical and Health Key Disciplines 

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  • Corresponding author: BIN Qiong, binqiong1386@126.com (ORCID: 0000-0002-0555-4219)
  • Received Date: 2022-08-04
  • Accepted Date: 2022-09-05
  • Published Date: 2023-04-20
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  • [1]
    Inherited Metabolic Liver Disease Collaboration Group, Chinese Society of Hepatology, Chinese Medical Association. Guidelines for the diagnosis and treatment of hepatolenticular degeneration (2022 edition)[J]. Chin J Hepatol, 2022, 30(1): 9-20. DOI: 10.3760/cma.j.cn501113-20211217-00603.

    中华医学会肝病学分会遗传代谢性肝病协作组. 肝豆状核变性诊疗指南(2022年版)[J]. 中华肝脏病杂志, 2022, 30(1): 9-20. DOI: 10.3760/cma.j.cn501113-20211217-00603.
    [2]
    GITLIN JD. Wilson disease[J]. Gastroenterology, 2003, 125(6): 1868-1877. DOI: 10.1053/j.gastro.2003.05.010.
    [3]
    DONG Y, NI W, CHEN WJ, et al. Spectrum and classification of ATP7B variants in a large cohort of Chinese patients with Wilson's disease guides genetic diagnosis[J]. Theranostics, 2016, 6(5): 638-649. DOI: 10.7150/thno.14596.
    [4]
    LU ZK, CHENG J, LI SM, et al. Phenotypes and ATP7B gene variants in 316 children with Wilson disease[J]. Chin J Pediatr, 2022, 60(4): 317-322. DOI: 10.3760/cma.j.cn112140-20210827-00708.

    卢致琨, 程静, 黎丝敏, 等. 肝豆状核变性患儿316例临床表型和ATP7B基因变异特征[J]. 中华儿科杂志, 2022, 60(4): 317-322. DOI: 10.3760/cma.j.cn112140-20210827-00708.
    [5]
    ZHOU J, LIAO JM, LIAO L, et al. A rare ATP7B genotype identified in the siblings with hepatolenticular degeneration and their pedigree analysis[J]. J Clin Hepatol, 2022, 38(5): 1122-1125. DOI: 10.3969/j.issn.1001-5256.2022.05.029.

    周洁, 廖金卯, 廖玲, 等. 罕见基因型的肝豆状核变性姐妹及其家系报告[J]. 临床肝胆病杂志, 2022, 38(5): 1122-1125. DOI: 10.3969/j.issn.1001-5256.2022.05.029.
    [6]
    SCHUSHAN M, BHATTACHARJEE A, BEN-TAL N, et al. A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism[J]. Metallomics, 2012, 4(7): 669-678. DOI: 10.1039/c2mt20025b.
    [7]
    XIAO H, DENG S, DENG X, et al. Mutation analysis of the ATP7B gene in seven Chinese families with Wilson's disease[J]. Digestion, 2019, 99(4): 319-326. DOI: 10.1159/000493314.
    [8]
    HUA R, HUA F, JIAO Y, et al. Mutational analysis of ATP7B in Chinese Wilson disease patients[J]. Am J Transl Res, 2016, 8(6): 2851-2861.
    [9]
    LEPORI MB, LOVICU M, DESSI V, et al. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin[J]. Genet Test, 2007, 11(3): 328-332. DOI: 10.1089/gte.2007.0015.
    [10]
    BALASHOVA MS, TULUZANOVSKAYA IG, GLOTOV OS, et al. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation[J]. J Trace Elem Med Biol, 2020, 59: 126420. DOI: 10.1016/j.jtemb.2019.126420.
    [11]
    ABDELGHAFFAR TY, ELSAYED SM, ELSOBKY E, et al. Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations[J]. J Hum Genet, 2008, 53(8): 681. DOI: 10.1007/s10038-008-0298-7.
    [12]
    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 Version), 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.
    [13]
    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.
    [14]
    OE S, HONMA Y, YABUKI K, et al. Importance of a liver biopsy in the management of Wilson disease[J]. Intern Med, 2020, 59(1): 77-81. DOI: 10.2169/internalmedicine.3440-19.
    [15]
    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.
    [16]
    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.
    [17]
    SOCHA P, JANCZYK W, DHAWAN A, et al. Wilson's disease in children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition[J]. J Pediatr Gastroenterol Nutr, 2018, 66(2): 334-344. DOI: 10.1097/MPG.0000000000001787.
    [18]
    BANDMANN O, WEISS KH, KALER SG. Wilson's disease and other neurological copper disorders[J]. Lancet Neurol, 2015, 14(1): 103-113. DOI: 10.1016/S1474-4422(14)70190-5.
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