原发型胆道胆管炎
Primary biliary cholangitis
定义 英文原文（暂无中文）
A rare autoimmune cholestatic liver disease characterized by autoimmune mediated damage of small intrahepatic bile ducts leading to cholestasis, fibrosis, and potential cirrhosis.
别名
原发性胆汁性肝硬化
基本事实
- 遗传方式
- 多基因/多因素、未知
- 发病年龄
- 青少年期、成年期、老年期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| IL12RB1 | interleukin 12 receptor subunit beta 1 | Major susceptibility factor in |
| SPIB | Spi-B transcription factor | Major susceptibility factor in |
| IL12A | interleukin 12A | Major susceptibility factor in |
| IRF5 | interferon regulatory factor 5 | Major susceptibility factor in |
| TNPO3 | transportin 3 | Major susceptibility factor in |
| MMEL1 | membrane metalloendopeptidase like 1 | Major susceptibility factor in |
| TNFSF15 | TNF superfamily member 15 | Major susceptibility factor in |
| POU2AF1 | POU class 2 homeobox associating factor 1 | Major susceptibility factor in |
临床表型 41
极常见 99–80%6
- 线粒体抗体阳性 HP:0030167
- 胆汁性肝硬化 HP:0002613
- 肝硬化 HP:0001394
- 高结合胆红素血症 HP:0002908
- 皮肤划痕症 HP:0011971
- 皮肤色素沉着 HP:0000953
常见 79–30%20
- 脂代谢异常 HP:0003119
- 肝内胆管形态异常 HP:0011040
- 甲状腺异常 HP:0000820
- 抗核抗体阳性 HP:0003493
- 自身免疫 HP:0002960
- 碱性磷酸酶升高 HP:0003155
- γ-谷氨酰转移酶活性增高 HP:0030948
- 肝功能衰竭 HP:0001399
- 肝纤维化 HP:0001395
- 肝细胞癌 HP:0001402
- 肝脏肿大 HP:0002240
- 高胆固醇血症 HP:0003124
- 循环IgM水平升高 HP:0003496
- 黄疸 HP:0000952
- 甲癣 HP:0012203
- 体位性低血压 HP:0001278
- 门脉高压 HP:0001409
- 瘙痒 HP:0000989
- 反复真菌感染 HP:0002841
- 睑黄瘤 HP:0001114
偶见 29–5%14
- 腹胀 HP:0003270
- 腹水 HP:0001541
- 乳糜泻 HP:0002608
- 食管静脉曲张 HP:0002040
- 日间睡眠增多 HP:0001262
- 疲乏 HP:0012378
- 肝性脑病 HP:0002480
- 肝炎 HP:0012115
- 低蛋白血症 HP:0003073
- 循环IgA水平升高 HP:0003261
- 骨质疏松 HP:0000939
- 睡眠异常 HP:0002360
- 脾肿大 HP:0001744
- 脂肪泻 HP:0002570
罕见 <4–1%1
- 胃肠道炎症 HP:0004386
近两年的全球研究 2,953L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08综述Autoantibodies to the nuclear envelope: Functional anatomy of the HEp-2 cell substrate
- 2026-08Autophagy of Kupffer cells modulates CD8<sup>+</sup> T cell activation in primary biliary cholangitis
- 2026-08Unmet needs in autoimmune liver disease: epidemiology and clinical outcomes from a Southeast Asian cohort
- 2026-08综述Cholestatic Pruritus: A Review of Pathophysiology, Clinical Manifestations, and Therapeutic Landscape
- 2026-08Machine Learning Predicts Treatment Response and Prognostic Pathways From Whole-Blood Transcriptome in Primary Biliary Cholangitis
- 2026-08Hepatic and Cardiovascular Outcomes in Primary Biliary Cholangitis With Metabolic-Dysfunction Associated Steatotic Liver Disease
- 2026-08CD11c<sup>+</sup> T-Bet<sup>+</sup> B Cell Expansion Reveals a Distinct Pathogenic Signature in Autoimmune Liver Diseases
- 2026-07病例报告Autoimmune Hepatitis-Primary Biliary Cholangitis Overlap Syndrome With Limited Systemic Sclerosis
- 2026-07Clinical applications of anti-centromere antibody in primary biliary cholangitis
- 2026-07A hepatic enigma: Pediatric presentation of primary biliary cholangitis
- 2026-07Overlap of Primary Biliary Cholangitis and Systemic Sclerosis: A Case of Reynolds Syndrome
- 2026-07综述AISF practice guidance on the treatment of primary biliary cholangitis: A 2026 update
- 2026-07Characterization of a Northern German Primary Biliary Cholangitis Cohort
- 2026-07Steroid-loaded Avidin-Nucleic-Acid-Nano-Assemblies reduce hepatic fibrosis modulating Kupffer cells in primary biliary cholangitis
- 2026-07综述Peroxisome Proliferator-Activated Receptor (PPAR) Agonists in Chronic Liver Diseases: Translating Mechanistic Insights into Clinical Practice and Future Perspectives
- 2026-07Stability and Variability of Symptom Burden in Primary Biliary Cholangitis: Insights From a Decade of Follow-Up
- 2026-07Suboptimal response to ursodeoxycholic acid among patients with primary biliary cholangitis and fenofibrate as add-on therapy: a single-centre retrospective study
- 2026-07Delphi consensus in primary biliary cholangitis: Collective introspection to set a path forward
- 2026-07Glucosyl hesperidin benefits in primary biliary cholangitis: a multicenter, open-label, randomized controlled study
- 2026-07Tissue-based detection of macrophage-associated YAP1-positive material in human acute liver injury: an exploratory immunopathological biopsy series
境外已获批用于本病的药物 7L2
欧盟 2 项、美国 5 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Iqirvo欧盟2024-09-19elafibranor官方记录
- Lyvdelzi (previously Seladelpar Gilead)欧盟2025-12-05seladelpar lysine dihydrate官方记录
- URSO 250美国1997-12-10Ursodiol官方记录
- OCALIVA美国2016-05-27obeticholic acid官方记录
- Iqirvo美国2024-06-10elafibranor官方记录
- Livdelzi美国2024-08-14seladelpar官方记录
- Lynavoy美国2026-03-17linerixibat官方记录
已获孤儿药资格、尚未获批的在研药物（20 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- setanaxib欧盟2021-01-06Treatment of primary biliary cholangitis官方记录
- saroglitazar magnesium欧盟2021-07-19Treatment of primary biliary cholangitis官方记录
- Lynavoy欧盟2021-11-12LinerixibatTreatment of primary biliary cholangitis官方记录
- chimeric peptide of human glucagon-like peptide-1, glucagon and gastri欧盟2022-01-14Treatment of primary biliary cholangitis官方记录
- norucholic acid欧盟2022-04-13Treatment of primary biliary cholangitis官方记录
- pemafibrate欧盟2023-07-25Treatment of primary biliary cholangitis官方记录
- volixibat potassium欧盟2025-01-16Treatment of primary biliary cholangitis官方记录
- (2S)-2-{[(2R)-2-[({[3,3-dibutyl-7-(methylthio)-1,1-dioxido-5-phenyl-2,美国2012-10-31Treatment of primary biliary cirrhosis官方记录
- budesonide美国2019-02-11Treatment of primary biliary cholangitis官方记录
- Glucagon-like peptide-1/Glucagon/Gastric inhibitory polypeptide triple美国2020-03-09Treatment of primary biliary cholangitis官方记录
- combination of p-Tolylmethylcarbinol nicotinic acid ester and a-naphth美国2020-03-30Treatment of primary biliary cholangitis官方记录
- Setanaxib美国2020-10-16Treatment of primary biliary cholangitis官方记录
- saroglitazar magnesium美国2021-01-26Treatment of Primary Biliary Cholangitis (PBC)官方记录
- (2R,3R,4S)-2-(2-chloro-6-(3-chlorobenzylamino)-9H-purin-9-yl)tetrahydr美国2021-02-01Treatment of Primary Biliary Cholangitis官方记录
- Golexanolone美国2023-01-12Treatment of primary biliary cholangitis官方记录
- Pemafibrate美国2023-04-20Treatment of primary biliary cholangitis官方记录
- Navacim, a human-specific peptide-major histocompatibility complex (pM美国2024-07-25treatment of primary biliary cholangitis官方记录
- volixibat美国2024-10-23treatment of primary biliary cholangitis官方记录
- PDC-E2-peptide drug substance美国2024-12-30treatment of primary biliary cholangitis官方记录
- selective nonsteroidal FXR agonist美国2025-07-24treatment primary biliary cholangitis官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 55L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 15
- 招募中NCT06365424Fenofibrate in Patients With Primary Biliary Cholangitis (PBC)中国研究中心 1 个：Xi'an
- 招募中NCT04650243Clinical Research of Tapering UDCA in PBC Patients With a Complete Response中国研究中心 1 个：Beijing
- 招募中NCT05050136A Study to Evaluate Efficacy and Safety of an Investigational Drug Named Volixibat in Patients With Itching Caused by Primary Biliary Cholangitis中国研究中心 7 个：Beijing、Changchun、Fuzhou、Hangzhou、Wuhan
- 招募中NCT05749822Fenofibrate for Compensated Cirrhosis Patients With Primary Biliary Cholangitis中国研究中心 12 个：Beijing、Changsha、Chengdu、Guangzhou、Kunming、Nanjing 等 11 地
- 招募中NCT05751967Fenofibrate Combined With Ursodeoxycholic Acid in Subjects With Primary Biliary Cholangitis中国研究中心 7 个：Chengdu、Guangzhou、Lanzhou、Nanjing、Shenyang、Tianjin 等 7 地
- 招募中NCT06051617Seladelpar in Subjects With Primary Biliary Cholangitis (PBC) and Compensated Cirrhosis中国研究中心 20 个：Beijing、Changchun、Chengdu、Chongqing、Fuzhou、Guangzhou 等 17 地
- 招募中NCT06755151Fenofibrate in Primary Biliary Cholangitis: a Real World Study中国研究中心 1 个：Xi'an
- 招募中NCT06755541Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cholangitis: a Real World Study中国研究中心 1 个：Xi'an
- 仅邀请入组NCT06591468A Multicenter, Randomized, Controlled Trial of Prednisone Combined With Ursodeoxycholic Acid in the Treatment of Primary Biliary Cholangitis With Moderate to Severe Interface Hepatitis Characteristics中国研究中心 2 个：Guangzhou、Xi'an
- 招募中NCT07149675PBC Long-term Outcomes Study中国研究中心 1 个：Beijing
- 招募中NCT07282353A Study of CS0159 in Patients With PBC With Inadequate Response or Intolerance to UDCA中国研究中心 42 个：Baoji、Beijing、Changchun、Changsha、Chengdu、Chongqing 等 31 地
- 招募中NCT07296458FIREFLY Trial: Fenofibrate Intervention---Randomized Evaluation in First-Line PBC Therapy中国研究中心 1 个：Xi'an
- 招募中NCT07449793Biochemical Response and Clinical Outcomes in Patients With PBC中国研究中心 1 个：Shanghai
- 尚未开始招募NCT07678645The Safety and Efficacy of Upadacitinib in Refractory Autoimmune Related Cholangitis and Atopic Dermatitis With Moderate to Severe Itching中国研究中心 1 个：Shanghai
- 尚未开始招募NCT07733882Study on Clinical and Pathological Features of Primary Biliary Cholangitis and Risk Factors Related to Disease Progression中国研究中心 1 个：Beijing
其他状态的试验（40 项）
- 已完成NCT01857284Safety and Efficacy of Tauroursodeoxycholic Acid Versus Ursofalk in the Treatment of Adult Primary Biliary Cirrhosis中国研究中心 25 个：Beijing、Chengdu、Guangzhou、Hangzhou、Kunming、Shanghai 等 9 地
- 状态未知NCT01662973Umbilical Cord Mesenchymal Stem Cells for Patients With Primary Biliary Cirrhosis中国研究中心 1 个：Beijing
- 状态未知NCT01440309Efficacy and Safety Study of Allogenic Mesenchymal Stem Cells for Patients With Refractory Primary Biliary Cirrhosis中国研究中心 1 个：Beijing
- 状态未知NCT02916290Fuzhenghuayu in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis中国研究中心 1 个：Xi'an
- 状态未知NCT02823366Fenofibrate for Patients With Primary Biliary Cirrhosis Who Had An Inadequate Response to Ursodeoxycholic Acid中国研究中心 1 个：Xi'an
- 状态未知NCT02916641Fuzhenghuayu for Patients With PBC Who Had An Inadequate Response to Ursodeoxycholic Acid中国研究中心 1 个：Xi'an
- 已撤回NCT02965911Efficacy and Safety of Fenofibrate Combined With UDCA in PBC Patients With an Incomplete Biochemical Response to UDCA中国研究中心 1 个：Beijing
- 已完成NCT03322943The Comparison About the Response of Ursodeoxycholic Acid in Primary Biliary Cholangitis Only and Primary Biliary Cholangitis With High Immune Globulin G or Aminotransferase at West China Hospital中国研究中心 1 个：Chengdu
- 已完成NCT02823353Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis中国研究中心 1 个：Xi'an
- 已完成NCT02917408Retrospective Study About Primary Biliary Cholangitis During January 2001 to July 2016 at West China Hospital中国研究中心 1 个：Chengdu
- 状态未知NCT02936596Remission Induction of Primary Biliary Cholangitis-autoimmune Hepatitis Overlap Syndrome中国研究中心 1 个：Chengdu
- 已完成NCT03188146Performance of Scoring Systems in Chinese Patients With Primary Biliary Cholangitis (PBC) on Ursodeoxycholic Acid中国研究中心 1 个：Beijing
- 已完成NCT03545672Early Identification of Myocardial Impairment in PBC中国研究中心 1 个：Shanghai
- 状态未知NCT03668145Mesenchymal Stem Cell Transplantation for Refractory Primary Biliary Cholangitis中国研究中心 1 个：Xi'an
- 状态未知NCT03345589A Trial of 18-22mg/kg/d Ursodeoxycholic in Refractory Primary Biliary Cholangitis中国研究中心 1 个：Chengdu
- 已完成NCT03590886Gut Microbes and Metabolic Group in Different PBC Patients for UDCA Response中国研究中心 1 个：Guangzhou
- 状态未知NCT03521297Probiotics in PBC Patients of Poor Response to UDCA中国研究中心 1 个：Guangzhou
- 状态未知NCT04278820A Study of TQA3526 in the Treatment of Primary Biliary Cirrhosis (PBC)中国研究中心 1 个：Changchun
- 进行中·不再招募NCT04167358Linerixibat Long-term Safety, and Tolerability Study中国研究中心 8 个：Beijing、Changchun、Chongqing、Guangzhou、Nanchang、Nanjing 等 8 地
- 状态未知NCT04617561Ursodeoxycholic Acid Combined With Low Dose Glucocorticoid in the Treatment of PBC With AIH Features II中国研究中心 1 个：Chengdu
- 状态未知NCT05181332Predictive Models of Hepatic Decompensation and Survival Outcomes in Pediatric Patients With Cirrhosis中国研究中心 1 个：Chengdu
- 状态未知NCT04618575Ursodeoxycholic Acid Combined With Total Glucosides of Paeony in the Treatment of PBC With AIH Features 1中国研究中心 1 个：Chengdu
- 状态未知NCT04981756PSC Clinical Epidemiology in China中国研究中心 3 个：Beijing、Shanghai
- 已完成NCT06309589The Effectiveness of Combining Ursodeoxycholic Acid With Vitamin D in Treating Patients With Primary Biliary Cholangitis中国研究中心 1 个：Ürümqi
- 状态未知NCT04376528Mycophenolate Mofetil Versus Cyclosporin A in the Treatment of Primary Biliary Cholangitis-autoimmune Hepatitis Overlap Syndrome Due to Nonresponse to Standard Therapy中国研究中心 1 个：Chengdu
- 状态未知NCT04933292A Randomised Clinical Trial Assessing the Efficacy and Safety of Mycophenolate Mofetil Versus Azathioprine for Induction of Remission in Treatment Primary Biliary Cholangitis-Autoimmune Hepatitis Overlap Syndrome中国研究中心 1 个：Chengdu
- 状态未知NCT04956328Study of Obeticholic Acid（OCA） Combination With Ursodeoxycholic Acid (UDCA) in Patients With Primay Biliary Cirrhosis (PBC)中国研究中心 1 个：Changchun
- 已完成NCT05450887Efficacy and Safety of Obeticholic Acid in the Treatment of Primary Biliary Cholangitis中国研究中心 1 个：Beijing
- 已完成NCT06715319Obeticholic Acid Versus Placebo, in Combination with Ursodeoxycholic Acid in Patients with Primary Biliary Cirrhosis中国研究中心 1 个：Changchun
- 已完成NCT05190523Study to Evaluate the Safety and Efficacy of ASC42 Tablets in Subjects With Primary Biliary Cholangitis中国研究中心 1 个：Beijing
- 状态未知NCT05463445Multicenter Observational Study of PSC and IgG4-SC in China中国研究中心 1 个：Shanghai
- 已完成NCT05624294Study to Evaluate Safety, Tolerability and Pharmacokinetics of CS0159 in Chinese Healthy Subjects中国研究中心 1 个：Shanghai
- 状态未知NCT05812612UDCA in the Treatment of COVID-19 Infection and Its Clinical Prognosis in Patients With Autoimmune Liver Disease中国研究中心 1 个：Beijing
- 进行中·不再招募NCT05896137CS0159 in Chinese Patients With PSC (Primary Sclerosing Cholangitis)中国研究中心 11 个：Beijing、Changchun、Changsha、Hangzhou、Hefei、Jinan 等 8 地
- 进行中·不再招募NCT05896124CS0159 in Chinese Patients With PBC (Primary Biliary Cholangitis)中国研究中心 16 个：Beijing、Changchun、Changsha、Chengdu、Guangzhou、Hangzhou 等 12 地
- 进行中·不再招募NCT06174402Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cholangitis中国研究中心 10 个：Beijing、Guangzhou、Kunming、Lanzhou、Nanjing、Shenyang 等 8 地
- 已完成NCT06098027Study of [14C]CS0159 in China Healthy Subjects中国研究中心 1 个：Suzhou
- 已完成NCT06591455A Pilot Study of Fenofibrate and Ursodeoxycholic Acid in the Treatment of Newly Diagnosed Primary Biliary Cholangitis中国研究中心 1 个：Xi'an
- 已完成NCT06888115A Study of the Pharmacokinetics and Safety of CS0159 in Subjects With Hepatic Injury中国研究中心 3 个：Shanghai、Suzhou
- 进行中·不再招募NCT07104201Fenofibrate in Subjects With Primary Biliary Cholangitis (PBC)中国研究中心 1 个：Xi'an
中国境外的在招试验 71L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国23意大利8西班牙8法国5德国5英国5比利时4加拿大4丹麦4瑞士3奥地利3澳大利亚3希腊3韩国3另有 21 个国家/地区
CT.gov 报告命中 71 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07646223Vancomycin Efficacy in Response to Dysbiosis in Atypical Colitis芬兰
- 招募中NCT07556913Elafibranor Pregnancy Surveillance Program: A Study to Evaluate the Safety of Elafibranor During Pregnancy美国
- 招募中NCT06723275LEOPARD Prospective Validation Cohort 1比利时、法国、德国、意大利、荷兰
- 尚未开始招募NCT07319169The Value of Spleen Stiffness Measurement in Patients With PBC比利时
- 尚未开始招募NCT06733519TH104 for the Treatment of Pruritus in Primary Biliary Cholangitis
- 尚未开始招募NCT07424677Study of Saroglitazar Magnesium for PBC Patients With Incomplete Response or Intolerant to UDCA Therapy
- 招募中NCT07387549A Study to Assess How Well and Safely Elafibranor Works in Adult Participants With Primary Sclerosing Cholangitis美国
- 尚未开始招募NCT07477782Fecal Microbiota Transplantation for Primary Sclerosing Cholangitis - Randomized Study Versus Sham Transplantation法国
- 尚未开始招募NCT07549607Clinical Characterization of Patients With Primary Biliary Cirrhosis Treated With Seladelpar in the Real-life Setting德国、瑞士
- 招募中NCT07216235Long-Term Study to Evaluate the Safety and Efficacy in Participants With Primary Biliary Cholangitis of Saroglitazar Magnesium-V on Clinical Outcomes美国
- 招募中NCT07598669Austrian PBC Registry奥地利
- 招募中NCT07607353Biodegradable Stents in Primary Sclerosing Cholangitis英国
- 招募中NCT07229911A Study of TAK-781 in Healthy Volunteers and in Participants With Non-Cirrhotic Primary Sclerosing Cholangitis (PSC)美国
- 尚未开始招募NCT07341282Investigation of Vancomycin Efficacy in Patients With Ulcerative Colitis and Primary Sclerosing Cholangitis加拿大
- 招募中NCT06699121A Study to Assess the Safety and Efficacy of LB-P8 in Patients With PSC美国
外部标识与链接
OrphanetOMIM:109720OMIM:613007OMIM:613008MONDO:0005388GARD:7459ICD-10 K74.3ICD-11 DB96.1ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）