罕见基因型的肝豆状核变性姐妹及其家系报告

周洁; 廖金卯; 廖玲; 杨还春; 刘展

doi:10.3969/j.issn.1001-5256.2022.05.029

罕见基因型的肝豆状核变性姐妹及其家系报告

DOI: 10.3969/j.issn.1001-5256.2022.05.029

周洁^a,
廖金卯^b,
廖玲^b,
杨还春^b,
刘展^a, , ,

a.
湖南师范大学附属第一医院(湖南省人民医院) 消化内科, 长沙 410000
b.
湖南师范大学附属第一医院(湖南省人民医院) 肝病内科, 长沙 410000

基金项目:

国家自然科学基金 (81770576);

湖南省卫生健康委科研计划项目 (202103030035)

伦理学声明：本例报告已获得患者及家属知情同意。

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：周洁负责资料分析, 撰写论文; 廖金卯负责拟定写作思路, 修改论文; 廖玲、杨还春参与收集及分析数据; 刘展负责指导撰写文章并最后定稿。

详细信息

通信作者:
刘展, liuzhan2004@126.com

计量
- 文章访问数: 456
- HTML全文浏览量: 96
- PDF下载量: 34
- 被引次数: 0
出版历程
- 收稿日期: 2021-08-25
- 录用日期: 2021-09-26
- 出版日期: 2022-05-20

A rare ATP7B genotype identified in the siblings with hepatolenticular degeneration and their pedigree analysis

a.
Department of Gastroenterology, The First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital), Changsha 410000, China
b.
Department of Hepatology, The First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital), Changsha 410000, China

Research funding:

National Natural Science Foundation (81770576);

Scientific Research Project of Hunan Health Commission (202103030035)

More Information

Corresponding author: Zhang, liuzhan2004@126.com(ORCID: 0000-0001-5214-1284)

摘要

- 肝豆状核变性 /
- 基因型 /
- 系谱
- Hepatolenticular Degeneration /
- Genotype /
- Pedigree

HTML全文

表 1 病例1~3主要临床资料

Table 1. Main clinical data of cases 1-3

指标	病例1	病例2	病例3(先证者)
发病年龄(岁)	57	48	46
性别	女	女	男
神经和/或精神症状	无	无	无
肝损伤	暴发性肝衰竭	脂肪变性	肝硬化
Alb(g/L)	23.9	42.63	23.6
TBil(μmol/L)	751.6	20.02	37.1
DBil(μmol/L)	263.6	7.26	19.2
ALT(U/L)	15.5	81.4	32
AST(U/L)	201.98	64.6	46
血清铜蓝蛋白(g/L)	0.13	0.04	0.09
24 h尿铜(Ug/24 h)	未测	200.9	未测
角膜K-F环	阴性	阴性	阳性
ATP7B基因型	c.2662A＞C/p.Thr888Pro	c.2662A＞C/p.Thr888Pro	未测

下载: 导出CSV

表 2 既往报道HLD患者病例特点

Table 2. Characteristics of previously reported cases of HLD patients

特点	患者
发病年龄(岁)	46
性别	女
神经和/或精神症状	阳性
肝损伤	阳性
角膜K-F环	阳性
血清铜蓝蛋白(mg/L)	103
(参考范围180~450 mg/L)
ATP7B基因型	c.2662A＞C/p.Thr888Pro

下载: 导出CSV

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