ABCB4基因突变相关肝硬化误诊为Wilson病1例报告

华磊; 孙权; 许文彬; 张龙; 王共强

doi:10.3969/j.issn.1001-5256.2021.06.039

ABCB4基因突变相关肝硬化误诊为Wilson病1例报告

DOI: 10.3969/j.issn.1001-5256.2021.06.039

华磊¹,
孙权¹,
许文彬²,
张龙¹,
王共强^1, ,

1.
安徽中医药大学神经病学研究所附属医院神经内科，合肥 230061
2.
安徽中医药大学第一附属医院感染科，合肥 230031

基金项目:

国家自然科学基金 (81503443)

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：华磊负责资料收集、分析及撰写论文；孙权、许文彬、张龙参与收集资料，提供意见及修改论文；王共强负责指导撰写文章并最后定稿。

详细信息

作者简介:
华磊(1987—)，男，主要从事运动障碍疾病研究

通信作者:
王共强，wgq616@163.com

中图分类号: R575.2
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- 被引次数: 0
出版历程
- 收稿日期: 2020-11-03
- 录用日期: 2020-12-07
- 出版日期: 2021-06-20

ABCB4 gene mutation-associated liver cirrhosis misdiagnosed as Wilson's disease: A case report

1.
Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei 230061, China
2.
Department of Infections Disease, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei 230031, China

摘要

- ABCB4基因 /
- 突变 /
- 肝硬化 /
- 肝豆状核变性 /
- 误诊
- ABCB4 gene /
- Mutation /
- Liver Cirrhosis /
- Hepatolenticular Degeneration /
- Diagnostic Errors

HTML全文

图 1 患者ABCB4基因突变

注：c.430C＞T∶ p.R144*，编码区第430号核苷酸由胞嘧啶变异为胸腺嘧啶，导致第144号氨基酸由精氨酸变异为终止，为无义突变。

下载: 全尺寸图片幻灯片

参考文献(10)

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