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ATP结合盒亚家族B成员4(ABCB4)基因突变相关性肝硬化合并胆囊结石1例报告

刘文迪 王芃 胡和平 周华邦

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ATP结合盒亚家族B成员4(ABCB4)基因突变相关性肝硬化合并胆囊结石1例报告

DOI: 10.12449/JCH240324
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:本文不存在任何利益冲突。
作者贡献声明:刘文迪、王芃负责收集数据,资料分析,撰写文章;胡和平、周华邦负责课题设计,拟定写作思路,修改文章并最后定稿。
详细信息
    通信作者:

    周华邦, zhouhb513@126.com (ORCID: 0000-0002-0301-4876)

ABCB4 gene mutation-associated liver cirrhosis with gallstones: A case report

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    Corresponding author: ZHOU Huabang, zhouhb513@126.com (ORCID: 0000-0002-0301-4876)
  • 摘要: ATP结合盒亚家族B成员4(ABCB4)基因突变疾病谱涉及进行性家族性肝内胆汁淤积3型、胆石症、妊娠期肝内胆汁淤积症、门静脉高压、肝硬化,甚至原发性肝脏、胆道恶性肿瘤等多种疾病。本院肝胆内科收治1例青年男性患者,入院初步诊断为胆囊结石,计划腹腔镜胆囊切除术,术前检查发现该患者肝功能异常、肝硬化、脾大、食管静脉轻度曲张,后进一步行二代测序明确诊断为ABCB4基因突变相关性肝硬化合并胆囊结石,给予熊去氧胆酸胶囊利胆治疗后,肝功能逐渐恢复正常。

     

  • 图  1  肝脏增强MRI及胃镜结果

    注: a,增强MRI的T2WI示肝硬化、脾大、胆囊炎;b,增强MRI的延迟期示肝胃间隙侧支血管形成;c,MRCP示肝周少量积液及胆囊颈部结石;d,胃镜示食管下段静脉轻度曲张。

    Figure  1.  Liver enhanced MRI and gastroscopy

    图  2  患者及其父母等全外显子基因测序结果

    注: 患者ABCB4基因发现2个杂合变异,一处为NM_000443.3:c.602C>T(p.Thr201Met),即编码区第602位碱基由C突变为 T,突变导致编码蛋白的第201位氨基酸由苏氨酸突变成甲硫氨酸,此处突变来源于患者的父亲;另一处为NM_000443.3:c.3121T>C(p.Phe1041Leu),即编码区第3121位碱基由T突变为C,突变导致编码蛋白的第1041位氨基酸由苯丙氨酸突变成亮氨酸,此处突变来源于患者的母亲。患者的姐姐亦检测到来源于父亲的突变:NM_000443.3:c.602C>T(p.Thr201Met)。

    Figure  2.  Sequence diagram of the whole Exon gene of the patient and his parents

    表  1  患者基因突变信息及可能出现的临床疾病表型

    Table  1.   Genetic mutation information of patients and possible clinical disease phenotypes

    基因 染色体 核苷酸/氨基酸变化 基因亚区 合子状态 疾病/表型 遗传方式
    ABCB4 (NM_000443.3) Chr7:87081045 c.602C>T p.Thr201Met Exon7 杂合 ICP3 PFIC3 LPAC AR、AD AR AR、AD
    Chr7:87037511 c.3121T>C p.Phe1041Leu Exon25 杂合
    注:AR,常染色体阴性;AD,常染色体显性。
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  • 收稿日期:  2023-05-09
  • 录用日期:  2023-06-20
  • 出版日期:  2024-03-20
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