原发性硬化性胆管炎
Primary sclerosing cholangitis
定义 英文原文（暂无中文）
Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
别名
PSC
基本事实
- 遗传方式
- 多基因/多因素
- 发病年龄
- 青少年期、成年期、儿童期、老年期
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TCF4 | transcription factor 4 | Major susceptibility factor in |
| GPR35 | G protein-coupled receptor 35 | Major susceptibility factor in |
| MST1 | macrophage stimulating 1 | Major susceptibility factor in |
| SEMA4D | semaphorin 4D | Disease-causing germline mutation(s) in |
临床表型 55
极常见 99–80%3
- 胆道形态异常 HP:0012440
- 自身免疫 HP:0002960
- 胆汁淤积 HP:0001396
常见 79–30%16
- 大肠生理功能异常 HP:0012700
- 腹水 HP:0001541
- 肝硬化 HP:0001394
- 腹壁浅静脉扩张 HP:0030168
- 肝源性碱性磷酸酶升高 HP:0010638
- 循环肝转氨酶水平升高 HP:0002910
- 发热 HP:0001945
- 肝纤维化 HP:0001395
- 肝脏肿大 HP:0002240
- 肝脾肿大 HP:0001433
- 手掌毛细血管扩张 HP:0100869
- 门脉高压 HP:0001409
- 蜘蛛痣 HP:0012522
- 脾肿大 HP:0001744
- 溃疡性结肠炎 HP:0100279
- 体重减轻 HP:0001824
偶见 29–5%28
- 腹痛 HP:0002027
- 大肠腺癌 HP:0040275
- 乳糜泻 HP:0002608
- 胆管癌 HP:0030153
- 胆石症 HP:0001081
- 慢性肝功能衰竭 HP:0100626
- 充血性心力衰竭 HP:0001635
- 抑郁 HP:0000716
- 疲乏 HP:0012378
- 泛发性肌萎缩 HP:0003700
- 肝炎 HP:0012115
- 肝细胞癌 HP:0001402
- 低蛋白血症 HP:0003073
- 黄疸 HP:0000952
- 循环维生素A浓度降低 HP:0004905
- 循环维生素D水平降低 HP:0100512
- 循环维生素E浓度降低 HP:0100513
- 循环维生素K水平降低 HP:0011892
- 骨质减少 HP:0000938
- 骨质疏松 HP:0000939
- 胰腺炎 HP:0001733
- 胸腔积液 HP:0002202
- IgM抗体多克隆性增高 HP:0003459
- 凝血酶原时间延长 HP:0008151
- 瘙痒 HP:0000989
- 肾功能不全 HP:0000083
- 甲状腺炎 HP:0100646
- 1型糖尿病 HP:0100651
罕见 <4–1%4
- 急性肝功能衰竭 HP:0006554
- 脑病 HP:0001298
- 胆囊新生物 HP:0100575
- 葡萄膜炎 HP:0000554
排除 0%4
- 嗜酸性粒细胞形态异常 HP:0001879
- 淀粉样变 HP:0011034
- 组织细胞增多症 HP:0100727
- 反复全身化脓性感染 HP:0005429
近两年的全球研究 3,905L2
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。
- 2026-09Fatigue and Cognitive Impairment in Adults With Primary Sclerosing Cholangitis: Results From Concept Elicitation Interviews
- 2026-08Dysbiotic microbiota trigger colitis-associated colorectal cancer and imprint a distinctive bile acid profile in a PSC-IBD model
- 2026-08Prognostic performance of liver stiffness measurements in primary sclerosing cholangitis: the prospective FICUS cohort
- 2026-08Liver transplantation in primary sclerosing cholangitis with hepatobiliary neoplasia: survival outcomes and impact of diagnostic uncertainty
- 2026-08Time-dependent histopathological remodelling of the appendix in patients with ulcerative colitis
- 2026-08Effect of a single dose antibiotic prophylaxis in scheduled bile duct interventions in Primary Sclerosing Cholangitis
- 2026-08Unmet needs in autoimmune liver disease: epidemiology and clinical outcomes from a Southeast Asian cohort
- 2026-08Hepatic iron accumulation is reduced in the cholestatic Mdr2-/- mouse
- 2026-08Emerging interest of anti-integrin αvβ6 antibodies for the diagnosis and prognosis of IBD and primary sclerosing cholangitis at the gut-liver interface
- 2026-07Polygenic Risk Scores Show Distinct Genetic Architectures of IBD-Associated Comorbidities
- 2026-07Histological AI-Assisted Analysis Outperforms Pathologist Assessment in Predicting Disease Outcomes in PSC Patients
- 2026-07Author's reply: "Fibrate therapy in primary sclerosing cholangitis"
- 2026-07Cholecystectomy before diagnosis of primary sclerosing cholangitis is associated with markedly worsened transplant free survival
- 2026-07Internal validation of the Hepascore and Liver Outcome Score for predicting clinical outcomes in autoimmune hepatitis and primary sclerosing cholangitis: a multi-centre study
- 2026-07Oral vancomycin is not associated with meaningful changes in liver-related endpoints among adults with primary sclerosing cholangitis: A randomized, placebo-controlled trial
- 2026-07综述Peroxisome Proliferator-Activated Receptor (PPAR) Agonists in Chronic Liver Diseases: Translating Mechanistic Insights into Clinical Practice and Future Perspectives
- 2026-07The Circulating Cholangiocarcinoma Protein Biomarkers CRP and MASP2 Also Predict Gallbladder Cancer Risk
- 2026-07A biopsychosocial approach to fatigue in primary sclerosing cholangitis: Potentially modifiable factors in the prospective SOMA.LIV study
- 2026-07The VISION-AI Trial: protocol for a pragmatic randomized controlled non-inferiority trial comparing artificial intelligence-guided colonoscopy to pancolonic chromoendoscopy for neoplasia detection in adults with colorectal inflammatory bowel disease
- 2026-07Circulating multi-omic signature of disease severity and cholangiocarcinoma in primary sclerosing cholangitis
境外已获批用于本病的药物 0L2
欧盟与美国均未检索到已获批用于本病的药物。
已获孤儿药资格、尚未获批的在研药物（27 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。
- Norursodeoxycholic acid欧盟2014-07-04Treatment of primary sclerosing cholangitis官方记录
- recombinant human monoclonal antibody binding to vascular adhesion pro欧盟2015-03-19Treatment of primary sclerosing cholangitis官方记录
- Humanised IgG1 monoclonal antibody against human eotaxin-2;nebokitug欧盟2020-08-21Treatment of primary sclerosing cholangitis官方记录
- chimeric peptide of human glucagon-like peptide-1, glucagon and gastri欧盟2021-12-10Treatment of primary sclerosing cholangitis官方记录
- Bezafibrate欧盟2022-08-10Treatment of primary sclerosing cholangitis官方记录
- volixibat potassium欧盟2025-02-26Treatment of primary sclerosing cholangitis官方记录
- beta-lapachone欧盟2025-06-20Treatment of primary sclerosing cholangitis官方记录
- Elafibranor欧盟2025-07-18Treatment of primary sclerosing cholangitis官方记录
- leuconostoc citreum, strain G511, live欧盟2025-11-21Treatment of primary sclerosing cholangitis官方记录
- docosahexaenoic acid, DHA美国2014-12-17Treatment of primary sclerosing cholangitis官方记录
- recombinant, fully-human, IgG4 immunoglobulin with antigen-binding spe美国2016-08-25Treatment of primary sclerosing cholangitis.官方记录
- berberine ursodeoxycholate美国2016-08-29treatment of primary sclerosing cholangitis官方记录
- Cotsiranib美国2017-06-15Treatment of primary sclerosing cholangitis官方记录
- (S)-3-((S)-2-(2-((2,6-difluorophenyl)amino)-2-oxoacetamido)propanamido美国2017-06-21Treatment of primary sclerosing cholangitis (PSC)官方记录
- 5-cholesten-3ß, 25-diol 3-sulfate sodium salt (25HC3S)美国2017-07-06Treatment of primary sclerosing cholangitis (PSC)官方记录
- Monoclonal antibody targeting CCL24美国2018-10-11Treatment of primary sclerosing cholangitis官方记录
- 2-[3-(2-chloro-4-{[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-y美国2018-10-25Treatment of Primary Sclerosing Cholangitis (PSC)官方记录
- Glucagon-like peptide-1/Glucagon/Gastric inhibitory polypeptide triple美国2020-03-04Treatment of primary sclerosing cholangitis官方记录
- Norucholic acid美国2021-06-24Treatment of Primary Sclerosing Cholangitis官方记录
- 3-(4-((3-endo)-3-((5-cyclopropyl-3-(2,6-dichlorophenyl)isoxazol-4- yl)美国2021-09-13Treatment of Primary Sclerosing Cholangitis官方记录
- Beta-Lapachone美国2022-03-28Treatment of Primary Sclerosing Cholangitis (PSC)官方记录
- Gly-Trp-Thr-Leu-Asn-Ser-Ala-Gly-Tyr-Leu-Leu- Gly-Pro-Pro-Pro-Ala-Leu-A美国2022-05-24Treatment of primary sclerosing cholangitis官方记录
- 3-([3,3-dibutyl-7-(methylsulfanyl)-1,1-dioxo-5-phenyl-2,3,4,5-tetrahyd美国2022-11-15Treatment of Primary Sclerosing Cholangitis官方记录
- Live biotherapeutic product consisting of a single bacterial strain (L美国2022-12-01Treatment of Primary Sclerosing Cholangitis官方记录
- small molecule inhibitor of hyaluronan synthesis美国2024-04-09treatment of primary sclerosing cholangitis官方记录
- elafibranor美国2025-07-16treatment of primary sclerosing cholangitis官方记录
- volixibat美国2026-07-21treatment of primary sclerosing 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 7L2
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 1
- 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
其他状态的试验（6 项）
- 已完成NCT02703194Leflunomide for Maintenance of Remission in IgG4 Related Disease中国研究中心 1 个：Beijing
- 状态未知NCT02797665Treatment of Obstructive Jaundice in Autoimmune Pancreatitis and/or Immunoglobulin G4-related Sclerosing Cholangitis by Corticosteroids中国研究中心 1 个：Beijing
- 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NCT04981756PSC Clinical Epidemiology in China中国研究中心 3 个：Beijing、Shanghai
- 状态未知NCT05463445Multicenter Observational Study of PSC and IgG4-SC in China中国研究中心 1 个：Shanghai
- 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
中国境外的在招试验 41L2
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19意大利6英国4法国3德国3加拿大3比利时2荷兰2奥地利2西班牙2芬兰1韩国1新西兰1瑞典1另有 2 个国家/地区
CT.gov 报告命中 41 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT06252610PET/MRI of Primary Sclerosing Cholangitis美国
- 尚未开始招募NCT07646223Vancomycin Efficacy in Response to Dysbiosis in Atypical Colitis芬兰
- 招募中NCT06723275LEOPARD Prospective Validation Cohort 1比利时、法国、德国、意大利、荷兰
- 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
- 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
- 尚未开始招募NCT06975150Efficacy and Safety of HK-660S in the Treatment of Primary Sclerosing Cholangitis
- 招募中NCT06905054Pharmacologic Approaches to Preventing Primary Sclerosing Cholangitis Recurrence After Liver Transplantation美国
- 尚未开始招募NCT06886360Study with Norucholic Acid Tablets in Patients with Primary Sclerosing Cholangitis (PSC)
- 招募中NCT06864195A Simple Breath Test to Detect Liver Cancer and Monitor Liver Conditions英国
- 招募中NCT06675604LEOPARD Training and Validation Data Collection Study奥地利、比利时、法国、德国、意大利、荷兰、西班牙
- 招募中NCT06865924Colangioids to Define the Genetic Factors Involved in Atypical Primary Sclerosing Cholangitis意大利
外部标识与链接
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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）