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35岁以上肝豆状核变性患者的临床特征分析

沃洪云 康成为 詹蕾 蒲小兵

引用本文:
Citation:

35岁以上肝豆状核变性患者的临床特征分析

DOI: 10.12449/JCH240120
基金项目: 

四川省医学会科研课题计划 (S21105)

伦理学声明:本研究方案于2022年6月经由四川大学华西公共卫生学院/华西第四医院审批,批号:HXSY-EC-2022048。
利益冲突声明:本文不存在任何利益冲突。
作者贡献声明:沃洪云、康成负责数据的获取分析解释过程;詹蕾对研究的思路或设计有关键贡献;蒲小兵参与修改文章关键内容。
详细信息
    通信作者:

    蒲小兵, metalli@126.com (ORCID: 0000-0001-5886-9727)

Clinical features of patients with hepatolenticular degeneration aged above 35 years

Research funding: 

Scientific Research Project of Sichuan Medical Association (S21105)

More Information
    Corresponding author: PU Xiaobing, metalli@126.com (ORCID: 0000-0001-5886-9727)
  • 摘要:   目的  总结年龄> 35 岁发病的肝豆状核变性(HLD)患者的临床特征。  方法  回顾性收集2018年4月—2023年4月四川大学华西公共卫生学院诊治的年龄> 35 岁发病的HLD患者的临床资料,根据HLD患者临床症状,分为混合型(n=13)、肝型(n=12)和脑型(n=5)。收集病例的性别、临床表现、确诊年龄、确诊距首发症状时间、家族史等信息;实验室检查,血常规、肝肾功能、血清铜、血清铜蓝蛋白、尿铜、凝血功能等指标以及影像学检查等情况。符合正态分布的计量资料多组间比较采用单因素方差分析;不符合正态分布的计量资料多组间比较采用Kruskal-Wallis H检验。计数资料组间比较采用Fisher确切概率法。  结果  30例HLD患者中,男女比例3∶1,平均年龄(46.13±5.88)岁,角膜K-F环阳性者占43.33%,肝硬化患者高达66.67%。三组间球蛋白、白球比、ALT、凝血酶原时间、国际标准化比率、部分活化凝血活酶时间差异均有统计学意义(F值分别为5.893、4.513、4.424、5.029、5.248、4.942,P值均<0.05)。  结论  35岁以后确诊HLD的患者男性居多,以混合型和肝型为主,肝脏和凝血功能情况较差,对于该年龄段不明原因的肝功能异常及肝硬化,应尽早筛查血清铜蓝蛋白、尿铜等指标,并进行肝肾功能和凝血功能的监测。

     

  • 图  1  患者彩超结果

    注: a,肝胆及门静脉;b,胆囊及肝脏;c,胆囊;d,胰腺及胰周;e、f,脾脏。

    Figure  1.  Ultrasound results of patients

    图  2  腹部CT

    Figure  2.  Abdominal CT

    图  3  MRI头部扫描

    Figure  3.  MRI head scan

    表  1  不同临床类型HLD患者实验室指标比较

    Table  1.   Comparison of laboratory parameters among patients with different clinical types of HLD

    指标 混合型(n=13) 肝型(n=12) 脑型(n=5) H P
    血清铜蓝蛋白(g/L) 0.03(0.02~0.06) 0.06(0.03~0.10) 0.06(0.01~0.15) H=2.761 0.251
    尿铜(μg/L) 325.50(175.50~930.50) 352.85(275.25~671.25) 432.50(129.75~958.00) H=0.471 0.790
    总蛋白(g/L) 63.49±5.55 68.37±7.80 67.70±3.80 F=2.005 0.154
    Alb(g/L) 36.09±5.92 34.62±8.68 42.66±5.06 F=2.337 0.116
    球蛋白(g/L) 27.42±4.96 33.75±6.72 25.04±3.91 F=5.893 0.008
    白球比 1.39±0.42 1.09±0.42 1.74±0.42 F=4.513 0.020
    ALT(U/L) 27.69±16.16 45.17±23.03 20.00±5.83 F=4.424 0.022
    AST(U/L) 30.00(22.00~36.00) 50.50(31.75~95.50) 20.00(19.00~28.00) H=9.199 0.010
    TBil(μmol/L) 17.00(12.00~28.95) 25.50(16.13~25.50) 14.00(10.40~17.00) H=5.249 0.072
    DBil(μmol/L) 7.00(6.00~10.65) 7.05(1.08~25.25) 4.60(4.25~5.00) H=3.491 0.175
    IBil(μmol/L) 11.00(6.65~18.30) 15.05(11.28~33.25) 9.00(5.85~12.50) H=5.494 0.064
    PT(s) 13.55±1.65 15.63±3.71 11.34±0.89 F=5.029 0.014
    INR 1.23±0.15 1.41±0.33 1.01±0.10 F=5.248 0.012
    APTT(s) 37.74±5.02 44.48±12.47 29.90±6.28 F=4.942 0.015
    注:APTT,活化部分凝血活酶时间。
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  • 收稿日期:  2023-04-13
  • 录用日期:  2023-05-08
  • 出版日期:  2024-01-23
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