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进行性家族性肝内胆汁淤积症

Progressive familial intrahepatic cholestasis

ORPHA:172疾病中国目录 第1批 · 97

定义 英文原文（暂无中文）

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

别名

PFIC

基本事实

遗传方式
常染色体隐性
发病年龄
青少年期、儿童期、婴儿期、新生儿期

相关基因 7来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
ABCB11ATP binding cassette subfamily B member 11ORPHA:79304
ABCB4ATP binding cassette subfamily B member 4ORPHA:79305
ATP8B1ATPase phospholipid transporting 8B1ORPHA:79306
MYO5Bmyosin VBORPHA:79306
NR1H4nuclear receptor subfamily 1 group H member 4ORPHA:480476
TJP2tight junction protein 2ORPHA:480483
UTP4UTP4 small subunit processome componentORPHA:168583

临床表型 14

极常见 99–80%9

  • 凝血异常 HP:0001928
  • 胆汁淤积 HP:0001396
  • 认知功能损害 HP:0100543
  • 发育迟滞 HP:0001508
  • 肝脏肿大 HP:0002240
  • 黄疸 HP:0000952
  • 吸收不良 HP:0002024
  • 身材矮小 HP:0004322
  • 脾肿大 HP:0001744

常见 79–30%4

  • 血小板异常 HP:0001872
  • 骨成熟延迟 HP:0002750
  • 低钙血症 HP:0002901
  • 骨密度降低 HP:0004349

偶见 29–5%1

  • 肿瘤 HP:0002664

近两年的全球研究 548L2

2024/10 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。

  • 2026-10
    Abstracts
    JPGN reports
  • 2026-10
    Evolution of Therapeutic Plasma Exchange Use and Outcomes in Children Across American Society for Apheresis Categories: A Single-Center Cohort Study
    Journal of clinical apheresis · DOI · Europe PMC
  • 2026-09
    Early predictors of pruritus response in children with PFIC treated with odevixibat
    Digestive and liver disease : official journal of the Italian Society · DOI · Europe PMC
  • 2026-09开放获取
    The nematode Caenorhabditis elegans has a cationic amphiphilic drug (CAD) defense system
    PLoS biology · DOI · Europe PMC
  • 2026-09开放获取
    The Childhood Liver Disease Research Network's prospective characterization of pediatric primary sclerosing cholangitis
    Hepatology communications · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Memantine-Induced Cholestasis and Acute Hepatitis in an 8-Week-Old Term Infant
    ACG case reports journal · DOI · Europe PMC
  • 2026-09
    Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations
    European journal of pediatrics · DOI · Europe PMC
  • 2026-09
    Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis
    Pediatric research · DOI · Europe PMC
  • 2026-09
    Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients
    Clinical genetics · DOI · Europe PMC
  • 2026-09综述开放获取
    X-linked myotubular myopathy, liver disease, and gene therapy
    Journal of neuromuscular diseases · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Recurrent acute liver failure in infancy - a novel <i>SCYL1</i> mutation: A case report
    World journal of clinical pediatrics · DOI · Europe PMC
  • 2026-09开放获取
    Outcomes of living donor liver transplantation in elderly Egyptian patients: a retrospective study
    Langenbeck's archives of surgery · DOI · Europe PMC
  • 2026-09开放获取
    Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution
    Medicine · DOI · Europe PMC
  • 2026-09
    Outcome of Pediatric Living Donor Liver Transplantation for Cholestatic Liver Disease in Different Body Weight Groups. A Retrospective Cohort Study
    La Clinica terapeutica · DOI · Europe PMC
  • 2026-09荟萃分析系统综述
    Outcomes of ABO-Incompatible Versus ABO-Compatible Liver Transplantation in Pediatric Recipients: An Updated Systematic Review and Meta-Analysis
    Pediatric transplantation · DOI · Europe PMC
  • 2026-08开放获取
    Reversal of surgical biliary diversion with ileal bile acid transport inhibitors: A new chapter in progressive familiar intrahepatic cholestasis type 1 management?
    JPGN reports · DOI · Europe PMC
  • 2026-08综述开放获取
    Shaping the research agenda of pediatric gastroenterology, hepatology, and nutrition: The proposal from a SIGENP expert groups
    JPGN reports · DOI · Europe PMC
  • 2026-08综述
    Progressive familial intrahepatic cholestasis disease burden and clinical approaches: a systematic review
    Journal of comparative effectiveness research · DOI · Europe PMC
  • 2026-08开放获取
    Liver-directed gene therapy results in amelioration of progressive familial intrahepatic cholestasis type 2 in mice
    Hepatology communications · DOI · Europe PMC
  • 2026-08病例报告开放获取
    Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing
    Cureus · DOI · Europe PMC

境外已获批用于本病的药物 3L2

欧盟 1 项、美国 2 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。

尚未获批的在研药物（4 项）

这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。

  • Livmarli欧盟2014-01-16
    (4R,5R)-1-[[4-[[4-[3,3-dibutyl-7-(dimethylamino)-2,3,4,5- tetrahydro-4-hydroxy-1,1-dioxi…
    Treatment of progressive familial intrahepatic cholestasis
    官方记录
  • 3alpha,6beta,7beta,12alpha-tetrahydroxy-5beta-cholan-24-oic acid美国2020-10-22
    treatment of progressive familial intrahepatic cholestasis
    官方记录
  • modified human ATP binding cassette subfamily B member 11 (ABCB11) mes美国2024-07-29
    treatment of progressive familial intrahepatic cholestasis
    官方记录
  • modified human ATP binding cassette subfamily B member 4 (ABCB4) mRNA 美国2024-11-18
    treatment of progressive familial intrahepatic cholestasis
    官方记录

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 1L2

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

  • 招募中NCT07588880
    A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in China
    观察性 · 2026/04/16Ipsen
    中国研究中心 6 个：Beijing、Chongqing、Hunan、Nanjing、Shanghai、Xiamen

中国境外的在招试验 12L2

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。

意大利4法国2荷兰2美国2加拿大1日本1韩国1比利时1德国1希腊1葡萄牙1西班牙1澳大利亚1

CT.gov 报告命中 12 项，此处取回并展示最近的 11 项。

  • 招募中NCT07411716
    Pediatric Evaluation and Registry for Liver Cholestasis in Canada
    观察性 · 2026/04/21Children's Hospital of Eastern Ontario
    加拿大
  • 招募中NCT06506734
    Dental Dyschromia and Quality of Life in Early Prolonged Hyperbilirubinemia
    观察性 · 2026/04/07University Hospital, Toulouse
    法国
  • 招募中NCT07293897
    A Database Study of Maralixibat (TAK-625) in Participants With Alagille Syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC)
    观察性 · 2026/01/13Takeda
    日本
  • 招募中NCT07317193
    DEFINING THE GENETIC DRIVERS OF ADULT-ONSET CHOLESTATIC LIVER DISEASE
    不适用 · 干预性 · 2025/11/01Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
    意大利
  • 招募中NCT07185919
    A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in South Korea
    观察性 · 2025/10/30Ipsen
    韩国
  • 招募中NCT07290257
    Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)
    IV 期 · 干预性 · 2025/09/25Mirum Pharmaceuticals, Inc.
    比利时、法国、德国、希腊、意大利、荷兰、葡萄牙、西班牙
  • 招募中NCT06777914
    Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers
    观察性 · 2024/10/22IRCCS Azienda Ospedaliero-Universitaria di Bologna
    意大利
  • 招募中NCT06781242
    Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis
    观察性 · 2024/01/16IRCCS Azienda Ospedaliero-Universitaria di Bologna
    意大利
  • 招募中NCT06193928
    Long-Term SafEty and Clinical Outcomes of LivmArli in Patients in the United States (LEAP-US)
    观察性 · 2023/09/21Mirum Pharmaceuticals, Inc.
    美国
  • 招募中NCT06778174
    Prospective Analysis of the Treatment of Progressive Familial Intrahepatic Cholestasis (TreatFIC)
    观察性 · 2023/02/09University Medical Center Groningen
    荷兰
  • 招募中NCT01793168
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
    观察性 · 2010/07Sanford Health
    澳大利亚、美国

外部标识与链接

OrphanetOMIM:211600OMIM:601847OMIM:602347MONDO:0015762ICD-10 K76.8ICD-11 5C58.03ClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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）