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白塞病

Behçet disease

ORPHA:117疾病中国目录 第2批 · 9

定义 英文原文（暂无中文）

A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

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
患病率
1-9 / 1 000 000（Spain）

相关基因 15

基因名称关联类型
FASFas cell surface death receptorMajor susceptibility factor in
HLA-Bmajor histocompatibility complex, class I, BMajor susceptibility factor in
IFNGR1interferon gamma receptor 1Major susceptibility factor in
IL10interleukin 10Major susceptibility factor in
IL23Rinterleukin 23 receptorMajor susceptibility factor in
MEFVMEFV innate immunity regulator, pyrinMajor susceptibility factor in
C4Acomplement C4A (Chido/Rodgers blood group)Major susceptibility factor in
IL12Ainterleukin 12AMajor susceptibility factor in
UBAC2UBA domain containing 2Major susceptibility factor in
STAT4signal transducer and activator of transcription 4Major susceptibility factor in
TLR4toll like receptor 4Major susceptibility factor in
CCR1C-C motif chemokine receptor 1Major susceptibility factor in
KLRC4killer cell lectin like receptor C4Major susceptibility factor in
IL12A-AS1IL12A antisense RNA 1Major susceptibility factor in
ERAP1endoplasmic reticulum aminopeptidase 1Major susceptibility factor in

临床表型 85

极常见 99–80%14

  • 关节炎 HP:0001369
  • 疲乏 HP:0012378
  • 发热 HP:0001945
  • 脑膜炎 HP:0001287
  • 偏头痛 HP:0002076
  • 肌痛 HP:0003326
  • 恶心和呕吐 HP:0002017
  • 口腔溃疡 HP:0000155
  • 睾丸炎 HP:0100796
  • 丘疹 HP:0200034
  • 畏光 HP:0000613
  • 复发性口疮性口炎 HP:0011107
  • 皮下结节 HP:0001482
  • 血管炎 HP:0002633

常见 79–30%21

  • 腹痛 HP:0002027
  • 皮肤的异常起疱 HP:0008066
  • 痤疮 HP:0001061
  • 关节疼痛 HP:0002829
  • 意识模糊 HP:0001289
  • C-反应蛋白水平升高 HP:0011227
  • 红细胞沉降速度升高 HP:0003565
  • 结节性红斑 HP:0012219
  • 步态异常 HP:0001288
  • 胃肠道出血 HP:0002239
  • 生殖器溃疡 HP:0003249
  • 头痛 HP:0002315
  • 轻偏瘫 HP:0001269
  • 免疫过敏 HP:0100326
  • 炎症反应增强 HP:0012649
  • 非肉芽肿性葡萄膜炎 HP:0007813
  • 全葡萄膜炎 HP:0012121
  • 针刺反应阳性 HP:0025532
  • 脓疱 HP:0200039
  • 浅表性血栓性静脉炎 HP:0002638
  • 静脉血栓形成 HP:0004936

偶见 29–5%48

  • AA淀粉样变 HP:4000041
  • 心肌形态异常 HP:0001637
  • 锥体束征 HP:0007256
  • 厌食症 HP:0002039
  • 主动脉瓣反流 HP:0001659
  • 动脉血栓形成 HP:0004420
  • 共济失调 HP:0001251
  • 非典型行为 HP:0000708
  • 缺血性坏死 HP:0010885
  • 失明 HP:0000618
  • 白内障 HP:0000518
  • 脑缺血 HP:0002637
  • 颅神经麻痹 HP:0006824
  • 发育倒退 HP:0002376
  • 心内膜炎 HP:0100584
  • 附睾炎 HP:0000031
  • 坏疽 HP:0100758
  • 肾小球病 HP:0100820
  • 咯血 HP:0002105
  • 反射亢进 HP:0001347
  • 颅内压增高 HP:0002516
  • 传染性脑炎 HP:0002383
  • 易激惹 HP:0000737
  • 干燥性角结膜炎 HP:0001097
  • 淋巴结肿大 HP:0002716
  • 吸收不良 HP:0002024
  • 记忆障碍 HP:0002354
  • 二尖瓣反流 HP:0001653
  • 心肌梗死 HP:0001658
  • 心肌炎 HP:0012819
  • 肌炎 HP:0100614
  • 非感染性脑膜炎 HP:0033430
  • 视神经炎 HP:0100653
  • 胰腺炎 HP:0001733
  • 感觉异常 HP:0003401
  • 心包炎 HP:0001701
  • 胸腔积液 HP:0002202
  • 胸膜炎 HP:0002102
  • 肺栓塞 HP:0002204
  • 肺浸润 HP:0002113
  • 阵发性发热 HP:0001954
  • 肾功能不全 HP:0000083
  • 视网膜病变 HP:0000488
  • 球后视神经炎 HP:0100654
  • 癫痫发作 HP:0001250
  • 脾肿大 HP:0001744
  • 眩晕 HP:0002321
  • 体重减轻 HP:0001824

罕见 <4–1%2

  • 腹泻 HP:0002014
  • 肾小球肾炎 HP:0000099

近两年的全球研究 597L2

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荟萃分析系统综述
    INCIDENCE AND PREVALENCE OF NONINFECTIOUS UVEITIS: A Systematic Review and Meta-Analysis
    Retina (Philadelphia, Pa.) · DOI · Europe PMC
  • 2026-07
    Pegylated interferon-α-2a in severe Adamantiades-Behçet disease: A series of seven cases
    Journal of the European Academy of Dermatology and Venereology : JEADV · DOI · Europe PMC
  • 2026-07病例报告
    Extra-Anatomical Aortic Bypass for Infected Aortic Arch Stent Graft: A Case Series
    The American journal of case reports · DOI · Europe PMC
  • 2026-07
    The Association Between Vitiligo and Uveitis: A Large Population-Based Study
    International journal of dermatology · DOI · Europe PMC
  • 2026-07病例报告
    Exuberant Dermatitis Herpetiformis With Oral Involvement Mimicking Behçet Disease and Disseminated Herpetic Infection: The Crucial Role of Direct Immunofluorescence
    Cureus · DOI · Europe PMC
  • 2026-07综述
    Diagnosis, treatment and monitoring of pediatric Behçet's disease: Systematic literature review informing the ISSAID/PRES recommendations
    Autoimmunity reviews · DOI · Europe PMC
  • 2026-07
    Ustekinumab for Intestinal Behçet's Disease: The First Cohort with a Novel Therapy
    Journal of digestive diseases · DOI · Europe PMC
  • 2026-07
    Unraveling the psychological burden of Behçet disease: the impact of anxiety and depression on health-related quality of life outcomes
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2026-07
    Complex vasculitic overlap: temporal arteritis complicating suspected neuro-behçet disease with recurrent ischemic injury
    BMC neurology · DOI · Europe PMC
  • 2026-07病例报告
    Allogeneic haematopoietic stem cell transplantation for refractory perforating intestinal Behçet disease in a patient with aplastic anaemia: A case report
    Medicine · DOI · Europe PMC
  • 2026-07综述
    Nailfold Videocapillaroscopy in Pediatric Rheumatology: Established Roles, Emerging Applications, and Future Perspectives
    Balkan medical journal · DOI · Europe PMC
  • 2026-07
    Identification of DNA sequence variants in the Vasculo-Behcet disease patient using whole exome sequencing: a pilot study from Pakistan
    Scientific reports · DOI · Europe PMC
  • 2026-07
    Crohn Disease, Takayasu Arteritis, and Thrombophlebitis: Is There Underlying Behçet Disease? Genetic Clues and the Complex Role of Infliximab
    The Journal of rheumatology · DOI · Europe PMC
  • 2026-06
    Diabetes Mellitus Prevalence by Uveitis Etiology at a Japanese Tertiary Center
    Diagnostics (Basel, Switzerland) · DOI · Europe PMC
  • 2026-06
    Artificial intelligence in rheumatology: a cross-sectional Scopus-based analysis
    Rheumatology international · DOI · Europe PMC
  • 2026-06综述
    Abdominal manifestations of multisystem diseases: a pattern-based imaging review
    Abdominal radiology (New York) · DOI · Europe PMC
  • 2026-06
    A giant coronary aneurysm posing as a cardiac mass: The stepwise diagnosis, medical and surgical management of Behçet disease in an adolescent
    Turk gogus kalp damar cerrahisi dergisi · DOI · Europe PMC
  • 2026-06综述
    Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept
    World journal of pediatrics : WJP · DOI · Europe PMC
  • 2026-06综述开放获取
    Ocular TB as the only manifestation of TB: diagnostic uncertainty and treatment thresholds
    International ophthalmology · DOI · Europe PMC
  • 2026-06病例报告开放获取
    A Case of Persistent Ataxia and Atypical Brain Lesions: From the National Multiple Sclerosis Society Case Conference Proceedings
    Neurology(R) neuroimmunology & neuroinflammation · DOI · Europe PMC

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（1 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。

  • dusquetide欧盟2026-03-25
    Treatment of Behçet's Disease
    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。

外部标识与链接

OrphanetOMIM:109650MONDO:0007191GARD:848ICD-10 M35.2ICD-11 4A62ClinicalTrials.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）