抗线粒体抗体阴性原发性胆汁性胆管炎的无创诊断

周嘉; 周靖媛; 高沿航

doi:10.12449/JCH250927

抗线粒体抗体阴性原发性胆汁性胆管炎的无创诊断

DOI: 10.12449/JCH250927

吉林大学第一医院肝胆胰内科，感染性疾病与病原生物学中心，长春 130021

基金项目:

国家自然科学基金 (U24A20654);

国家自然科学基金 (82170602);

吉林省自然科学基金自由探索重点项目 (YDZJ202401427ZYTS);

吉林省肝脏代谢重点实验室 (YDZJ202502CXJD002);

国家重点研发计划 (2024YFE0213800)

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：高沿航负责课题设计；高沿航、周嘉负责查阅文献并起草论文；高沿航、周嘉、周靖媛参与文章撰写及修改，校阅论文。

详细信息

通信作者:
高沿航， yanhang@mail.jlu.edu.cn （ORCID： 0000-0001-8590-6706）

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出版历程
- 收稿日期: 2025-01-20
- 录用日期: 2025-03-26
- 出版日期: 2025-09-25

Noninvasive diagnosis of anti-mitochondrial antibody-negative primary biliary cholangitis

Department of Hepatology，The First Hospital of Jilin University，Center of Infections Disease and Pathogen Biology，Changchun 130021，China

Research funding:

National Natural Science Foundation of China (U24A20654);

National Natural Science Foundation of China (82170602);

Natural Science Foundation for Self-Exploration Research of Jilin Province (YDZJ202401427ZYTS);

Jilin Provincial Key Laboratory of Metabolic Liver Diseases (YDZJ202502CXJD002);

National Key Research and Development Program of China (2024YFE0213800)

More Information

Corresponding author: GAO Yanhang， yanhang@mail.jlu.edu.cn （ORCID： 0000-0001-8590-6706）

摘要

摘要: 原发性胆汁性胆管炎（PBC）是一种自身免疫性疾病，主要特征是肝内胆管的胆汁淤积。抗线粒体抗体（AMA）是目前诊断PBC的关键血清标志物，但仍有5%～10%的PBC患者血清中无法检测出AMA，可能需要依赖肝脏活组织检查确诊。对于AMA阴性的PBC患者，无创性诊断仍是一个挑战。本文回顾除AMA外其他特异性血清标志物的研究进展，总结这些血清标志物诊断AMA阴性PBC的优缺点，并分析未来有望成为AMA阴性PBC患者无创性诊断的新生物标志物类型，以期为发现敏感性更高的血清标志物提供新思路。
- 原发性胆汁性胆管炎 /
- 自身抗体 /
- 诊断 /
- 生物标记
Abstract: Primary biliary cholangitis （PBC） is an autoimmune disease characterized by cholestasis of the intrahepatic bile ducts. Anti-mitochondrial antibody （AMA） is currently the key serum marker for the diagnosis of PBC， and however， there are still 5%—10% of patients with PBC who have undetectable AMA in their serum and need liver biopsy to make a confirmed diagnosis. Noninvasive diagnosis remains a challenge in AMA-negative PBC patients. This article reviews the research advances in specific serum markers other than AMA， summarizes the advantages and disadvantages of these serum markers in the diagnosis of AMA-negative PBC， and analyzes the types of new biomarkers that may be used in the noninvasive diagnosis of patients with AMA-negative PBC， in order to provide new ideas for identifying serum markers with higher sensitivities.
- Primary Biliary Cirrhosis /
- Autoantibodies /
- Diagnosis /
- Biomarkers

HTML全文

图 1 AMA阴性PBC的分层诊断流程

Figure 1. Stratified diagnostic algorithm for AMA-negative PBC

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表 1 AMA阴性PBC患者血清生物标志物的诊断效能评价

Table 1. Evaluation of the diagnostic performance of serum biomarkers in AMA-negative primary biliary cholangitis patients

血清标志物	定位	功能	敏感度（%）	特异度（%）
抗gp210抗体^［14-18］	细胞核核膜，跨膜NPC蛋白	维持NPC结构的完整性	11～55	75～99
抗-NUP62抗体^［18］	细胞核核膜，NPC中央通道内	物质运输功能	36	98
抗sp100抗体^{［17，20］}	细胞核内，PML核体相关蛋白	参与调控基因转录、蛋白质合成、细胞增殖和分化等生物学过程	16～65	83～99
抗sp140抗体^［17］	细胞核内，PML核体相关蛋白	参与调控基因转录、蛋白质合成、细胞增殖和分化等生物学过程	56	100
抗PML抗体^［17］	细胞核内，PML核体蛋白	参与调控基因转录、蛋白质合成、细胞增殖和分化等生物学过程	41	100
抗-KLHL12抗体^［28-30］	细胞核	胶原蛋白运输；调控Dishevelled蛋白泛素化	10.5～80	96～98
抗-HK1抗体^［28-30］	线粒体外膜	参与细胞能量代谢；抑制细胞色素c的释放，防止细胞凋亡	11.8～40	85～98
ATX^［32］	脂肪细胞、内皮细胞、单核细胞、树突状细胞、肝细胞等细胞分泌	胰岛素抵抗、细胞运动和增殖、血管生成、血小板聚集、炎症反应调节	50	93.1

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