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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

引用本文:
Citation:

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
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

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

Research funding: 

National Natural Science Foundation (81770576);

Scientific Research Project of Hunan Health Commission (202103030035)

More Information
  • 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
    神经和/或精神症状
    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
    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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  • 收稿日期:  2021-08-25
  • 录用日期:  2021-09-26
  • 出版日期:  2022-05-20
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