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83例肝豆状核变性患者的临床特征分析

纪雷 张莹 孔丽 赵素贤 崔坡 张庆山 孔令波 任伟光

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83例肝豆状核变性患者的临床特征分析

DOI: 10.3969/j.issn.1001-5256.2022.08.023
利益冲突声明:本研究不存在研究者、伦理委员会成员、受试者监护人以及与公开研究成果有关的利益冲突。
作者贡献声明:孔丽对提出研究思路、设计研究方案有关键贡献并负责文章最后修订;纪雷负责采集、分析数据并负责文章起草及修正。
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    通信作者:

    孔丽,kongliyouxiang@sina.com

Clinical features of Wilson's disease: An analysis of 83 cases

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  • 摘要:   目的  总结肝豆状核变性患者的临床特征。  方法  回顾性分析2013年4月—2021年8月河北医科大学第三医院收治的83例肝豆状核变性患者的临床表现、实验室/影像学/肝组织病理学检查、ATP7B基因检测结果。根据损伤部位不同区分临床类型。多组间比较采用单因素方差分析。  结果  83例WD患者中,男女比例1∶ 1.075;发病年龄最小为3岁,平均(21.16±14.87)岁,其中≤18岁者39例(46.99%);以肝损伤为首发表现者(肝型)为主(63.86%),31例(37.35%)患者就诊时已进展为肝硬化,5例(6.2%)患者以急性或慢加急性肝衰竭就诊。角膜K-F环阳性62例(74.69%),其中肝型患者K-F环阳性率为66.04%;血铜蓝蛋白下降79例(95.18%),24 h尿铜升高73例(87.95%)。25例肝组织病理结果显示,肝组织均有不同程度的炎症、纤维化及脂变,以及铜颗粒沉积。25例ATP7B基因检测结果中,突变位点以外显子8的c.2333G>T/p.R778L最为常见。  结论  肝豆状核变性患者以肝病表现为主,角膜K-F环、血清铜蓝蛋白、24 h尿铜指标均有一定局限性。诊断不明时,应行肝组织病理学检查和ATP7B基因检测联合分析。

     

  • 表  1  不同临床类型WD患者发病年龄的特点

    Table  1.   Age characteristics of different clinical types of Wilson's disease

    指标 肝型(n=53) 脑型(n=6) 混合型(n=18) 其他型(n=6)
    平均发病年龄(岁) 24.60±15.86 36.75±14.95 29.94±12.60 23.43±17.19
    发病年龄范围(岁) 3~63 12~61 7~41 3~47
    发病年龄段[例(%)]
      ≤18岁 26(49.06) 2(33.33) 8(44.44) 3(50)
      >18岁 27(50.94) 4(66.67) 10(55.56) 3(50)
    下载: 导出CSV

    表  2  不同临床类型WD患者铜代谢及角膜K-F环特征

    Table  2.   Characteristics of copper metabolism and corneal K-F ring in different clinical types of Wilson' s disease

    指标 总体(n=83) 肝型(n=53) 脑型(n=6) 混合型(n=18) 其他(n=6)
    血清铜蓝蛋白(g/L) 0.09±0.10 0.10±0.12 0.05±0.05 0.07±0.04 0.09±0.07
    血清铜蓝蛋白浓度分级[例(%)]
      <0.1 g/L 62(74.70) 37(69.81) 5(83.33) 16(88.89) 4(66.67)
      0.1~0.21 g/L 17(20.48) 12(22.64) 1(16.67) 2(11.11) 2(33.33)
      ≥0.22 g/L 4(7.55) 4(7.55) 0 0 0
    24 h尿铜(μmol/24 h) 11.03±12.49 9.89±12.87 6.04±3.88 14.42±13.31 15.85±10.34
    K-F环阳性[例(%)] 62(74.69) 35(66.04) 6(100) 15(83.33) 6(100)
    注:血清铜蓝蛋白正常值范围为0.22~0.58 g/L;24 h尿铜正常值范围为<0.47 μmol/24 h。
    下载: 导出CSV
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  • 收稿日期:  2022-01-12
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