ATP7B基因复合杂合突变合并妊娠期急性脂肪肝1例报告

杨丹; 张翠薇; 邓明明

doi:10.3969/j.issn.1001-5256.2022.01.027

ATP7B基因复合杂合突变合并妊娠期急性脂肪肝1例报告

DOI: 10.3969/j.issn.1001-5256.2022.01.027

a.
西南医科大学附属医院消化内科，四川泸州 646000
b.
西南医科大学附属医院病理科，四川泸州 646000

基金项目:

西南医科大学校级课题 (2017-ZRQN-142)

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：杨丹负责拟定研究思路，撰写论文；张翠薇负责收集分析数据；邓明明负责修改论文和最终定稿。

详细信息

通信作者:
杨丹，369926610@qq.com

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- 被引次数: 0
出版历程
- 收稿日期: 2021-04-28
- 录用日期: 2021-06-08
- 出版日期: 2022-01-20

A compound heterozygous mutation in the ATP7B gene with acute fatty liver of pregnancy: A case report

a.
Department of Gastroenterology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China
b.
Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China

Research funding:

The College Subject of Southwest Medical University (2017-ZRQN-142)

摘要

- 肝豆状核变性 /
- 妊娠并发症 /
- 脂肪肝 /
- 突变
- Hepatolenticular Degeneration /
- Pregnancy Complications /
- Fatty Liver /
- Mutation

HTML全文

图 1 患者肝脏穿刺活检病理

注：a，可见大泡性脂肪变性，部分可见空泡核、糖原核(HE染色，×200)；b，汇管区纤维增生和淋巴细胞浸润，假小叶形成(HE染色，×200)；c，铜染色阳性(×200)；d：铁染色阴性(×200)。

下载: 全尺寸图片幻灯片

图 2 患者ATP7B基因检测结果

下载: 全尺寸图片幻灯片

参考文献(15)

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