以反复肝功能异常为表现的Danon病1例报告

蒲蕾蕾; 朱蓉

doi:10.3969/j.issn.1001-5256.2023.03.022

以反复肝功能异常为表现的Danon病1例报告

DOI: 10.3969/j.issn.1001-5256.2023.03.022

蒲蕾蕾,
朱蓉^, ,

遵义医科大学附属医院消化病医院，遵义医科大学附属医院消化内科，贵州遵义 563000

基金项目:

贵州省科学技术厅基础研究一般项目 (Guizhou Science and Technology Cooperation Foundation-ZK〔2022〕General 646)

伦理学声明：本例报告患者已签署知情同意书。

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：蒲蕾蕾负责收集临床数据，分析资料，撰写论文；朱蓉负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
朱蓉，rongzhuzhurong@126.com (ORCID：0000-0002-4795-0180)

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出版历程
- 收稿日期: 2022-07-22
- 录用日期: 2022-10-26
- 出版日期: 2023-03-20

A case of Danon's disease with recurrent abnormal liver function

Leilei PU,
Rong ZHU^{,
,}

Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563000, China

Research funding:

General Project of Basic Research of Guizhou Department of Science and Technology (Guizhou Science and Technology Cooperation Foundation-ZK〔2022〕General 646)

More Information

Corresponding author: ZHU Rong, rongzhuzhurong@126.com (ORCID: 0000-0002-4795-0180)

摘要

- Danon病 /
- 代谢相关脂肪性肝病 /
- 基因检测
- Danon Disease /
- Metabolic Associated Fatty Liver Disease /
- Genetic Testing

HTML全文

图 1 患者溶酶体膜相关蛋白-2 (LAMP2)基因检测结果

注：箭头表示突变核苷酸的位置。

Figure 1. Genetic testing for lysosome-associated membrane protein-2 (LAMP2) in patient

下载: 全尺寸图片幻灯片

图 2 患者肝功能变化

Figure 2. Changes of liver function in patient

下载: 全尺寸图片幻灯片

图 3 患者心肌酶和心肌蛋白变化

Figure 3. Changes of myocardial enzymes and cardiac proteins in patient

下载: 全尺寸图片幻灯片

参考文献(17)

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