家族性地中海热

定义 英文原文（暂无中文）

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

别名

家族性阵发性多浆膜炎

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

青少年期、成年期、儿童期、婴儿期

患病率

>1 / 1000（Turkey）

相关基因 1

临床表型 50

近两年的全球研究 1,278L2

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
  A genotype-first approach reveals the molecular basis of pyrin inflammasome activation
  Science immunology · DOI · Europe PMC
• 2026-08
  An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation
  Science immunology · DOI · Europe PMC
• 2026-08
  Outcomes of living related kidney donors of recipients with familial mediterranean fever-associated Amyloid A Amyloidosis
  Wiener klinische Wochenschrift · DOI · Europe PMC
• 2026-08
  Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants
  European journal of pediatrics · DOI · Europe PMC
• 2026-08
  Effectiveness and probability of full disease control with canakinumab in familial Mediterranean fever: real-world data from the AIDA Network
  Rheumatology (Oxford, England) · DOI · Europe PMC
• 2026-08
  Shear-wave elastography-based assessment of liver, spleen, and thyroid stiffness in children with Familial Mediterranean Fever in remission: a prospective case-control study
  The British journal of radiology · DOI · Europe PMC
• 2026-07
  Redefining the Landscape: Acquired Mutations Driving Systemic Autoinflammatory Diseases
  Arthritis & rheumatology (Hoboken, N.J.) · DOI · Europe PMC
• 2026-07病例报告
  Diagnosis of fibrillary glomerulonephritis suggests possible atypical familial Mediterranean fever in a patient with ulcerative colitis
  CEN case reports · DOI · Europe PMC
• 2026-07
  Disentangling the hepatic risks of familial Mediterranean Fever and colchicine: A propensity score-matched analysis of 19,231 patients
  Seminars in arthritis and rheumatism · DOI · Europe PMC
• 2026-07
  Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study
  Scientific reports · DOI · Europe PMC
• 2026-07
  Familial Mediterranean Fever Is Associated with Higher Atopic Morbidity: Evidence from a Country-Wide Case-Control Study
  The journal of allergy and clinical immunology. In practice · DOI · Europe PMC
• 2026-07
  Sleep Quality and Depressive Symptoms in Clinically Stable Pediatric Familial Mediterranean Fever: Associations with Disease Severity and Developmental Factors
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-07
  Anakinra treatment practices in colchicine-resistant familial Mediterranean fever: a survey of pediatric rheumatologists conducted through the PReS AID-WP and the Turkish pediatric rheumatology associations
  Expert opinion on biological therapy · DOI · Europe PMC
• 2026-07
  Instagram as an Educational Platform for Familial Mediterranean Fever: A 33-Month Experience
  The Journal of rheumatology · DOI · Europe PMC
• 2026-07综述
  Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019-2026)
  Pediatric rheumatology online journal · DOI · Europe PMC
• 2026-07
  Oral health findings and dental behaviour in children with familial mediterranean fever: a case-control study
  BMC oral health · DOI · Europe PMC
• 2026-07
  Cardiovascular Risk and Bone Mineral Density in Children with Familial Mediterranean Fever: The Role of Disease Severity and Genetic Mutations
  International journal of molecular sciences · DOI · Europe PMC
• 2026-07
  Beyond genotype: clustering analysis highlights clinical heterogeneity in paediatric familial Mediterranean fever
  RMD open · DOI · Europe PMC
• 2026-07
  Recurrent Isolated Sixth Cranial Nerve Palsy Despite Normal Neuroimaging in Familial Mediterranean Fever
  International journal of rheumatic diseases · DOI · Europe PMC
• 2026-07
  Case Report: Acute Sarcoid Myositis Mimicking Protracted Febrile Myalgia in Familial Mediterranean Fever
  International journal of rheumatic diseases · DOI · Europe PMC

境外已获批用于本病的药物 2L2

欧盟 0 项、美国 2 项。同一药物在两地各批一次的，会分别列出。

• Colcrys美国2009-07-29
  colchicine
  官方记录
• ILARIS美国2016-09-23
  canakinumab
  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 19L2

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 6

• 招募中NCT07077473
  Observing the Efficacy and Safety of Different Drugs Used in Real-world Familial Mediterranean Fever (FMF) Cases
  观察性 · 2018/01/01Tongji Hospital
  中国研究中心 1 个：Wuhan
• 招募中NCT05200715
  AutoInflammatory Disease Alliance Registry (AIDA)
  观察性 · 2020/08/06University of Siena
  中国研究中心 2 个：Beijing、Chongqing
• 招募中NCT05845723
  Tocilizumab and Tofacitinib in the Treatment of Vascular Behçet's Syndrome
  II 期 · 干预性 · 2023/06/01Peking Union Medical College Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT06145893
  A Study of Efficacy and Safety of Hemay005 Tablets in Patients With Behçet's Disease
  III 期 · 干预性 · 2023/11/13Ganzhou Hemay Pharmaceutical Co., Ltd
  中国研究中心 22 个：Beijing、Changchun、Guangzhou、Guilin、Hangzhou、Linyi 等 16 地
• 招募中NCT06849908
  Baricitinib in the Treatment of Intestinal Behçet's Syndrome
  II 期 · 干预性 · 2024/11/08Peking Union Medical College Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT06794008
  BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
  II 期 · 干预性 · 2024/12/26Peking University People's Hospital
  中国研究中心 1 个：Beijing

中国境外的在招试验 57L2

CT.gov 报告命中 57 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07157189
  Clinical, Laboratory, and Therapeutic Analysis of Behçet's Disease in Assiut
  观察性 · 2026/09/30Assiut University
• 尚未开始招募NCT07737470
  Inflammatory Disease Biobank for Immunophenotyping and Cardiovascular Research
  观察性 · 2026/09/01Assistance Publique - Hôpitaux de Paris
• 尚未开始招募NCT07617558
  Validity and Reliability of the International Physical Fitness Questionnaire and the Self-Perceived Health-Related Physical Fitness Questionnaire in Children and Adolescents With JIA and FMF
  观察性 · 2026/07/01Istanbul University - Cerrahpasa
• 招募中NCT07702149
  Diet Restiction in Subjects With Behcet Disease and Complaint of Tinnitus
  不适用 · 干预性 · 2026/06/04Cairo University
  埃及
• 招募中NCT07702123
  Efficacy of Physical Activity Program in Metabolic-syndrome Females With Behcet Disease
  不适用 · 干预性 · 2026/06/02Cairo University
  埃及
• 招募中NCT07662603
  Behcet Disease Patients With Pulmonary Endoarterectomy: Outcomes of Program of Inspiratory Msucle Trianing
  不适用 · 干预性 · 2026/05/06Cairo University
  埃及
• 尚未开始招募NCT07476625
  Efficacy and Safety of Thalidomide for Pediatric PFAPA Syndrome
  不适用 · 干预性 · 2026/04/01Wenjie Zheng
• 招募中NCT07517250
  A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still's Disease Patients
  观察性 · 2026/03/15Novartis Pharmaceuticals
  瑞士
• 招募中NCT06544018
  Circadian Rhythm Deregulation in Patients With CAPS
  不适用 · 干预性 · 2026/02/25Hospices Civils de Lyon
  法国
• 招募中NCT07247266
  Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of JTE-162 in Subjects With Cryopyrin-Associated Periodic Syndrome (CAPS)
  I 期 · 干预性 · 2026/02/02Akros Pharma Inc.
  加拿大
• 尚未开始招募NCT07439341
  AGE and CALLY Index in Familial Mediterranean Fever
  观察性 · 2026/02/01Bursa City Hospital
• 尚未开始招募NCT07329556
  Skin Autofluorescence Assessment of Advanced Glycation End Products in Rheumatic Diseases
  观察性 · 2026/01/15Bursa City Hospital
• 招募中NCT07375940
  Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
  不适用 · 干预性 · 2026/01/12Meyer Children's Hospital IRCCS
  意大利、英国
• 尚未开始招募NCT07248059
  Prevalence of Oral Findings in Egyptian Patients Diagnosed With Familial Mediterranean Fever
  观察性 · 2025/12Cairo University
  埃及
• 招募中NCT07077304
  EACVI Study on Multimodality Cardiovascular Imaging of Inflammatory Cardiovascular Diseases
  观察性 · 2025/11/19Assistance Publique - Hôpitaux de Paris
  法国

外部标识与链接