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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 684L2

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病例报告开放获取
    Clinical Images: Tumor necrosis factor inhibitor-associated demyelination in a case of neuro-Behçet disease
    ACR open rheumatology · DOI · Europe PMC
  • 2026-09综述
    The Role of Vitamin D in Noninfectious Uveitis: A Scoping Review with Transcriptomic and Bioinformatic Insights
    Ocular immunology and inflammation · DOI · Europe PMC
  • 2026-09开放获取
    Diagnostic Utility of Novel and Established Spinal MRI Signs in AQP4-IgG-Seropositive NMOSD Myelitis
    Neurology · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Clotting Beyond Boundaries: Extensive Iliocaval Thrombosis Revealing Homozygous Factor V Leiden Mutation in a Young Adult Following Prolonged Air Travel
    Cureus · DOI · Europe PMC
  • 2026-09
    Biologic Therapy in Refractory Non-Infectious Uveitis: An Analysis of 60 Cases at a Tertiary Eye Care Centre from South India
    Ocular immunology and inflammation · DOI · Europe PMC
  • 2026-09综述开放获取
    Bridging Autoimmunity and Hyperinflammation: Shared Immunological Pathways Among Autoimmune/Inflammatory Syndrome Induced by Adjuvants, Systemic Lupus Erythematosus, and Macrophage Activation Syndrome
    Biomedicines · DOI · Europe PMC
  • 2026-09开放获取
    Proceedings of the 33rd European Paediatric Rheumatology Congress
    Pediatric rheumatology online journal · DOI · Europe PMC
  • 2026-09综述开放获取
    Glucocorticoids: an enemy or a friend for the dermatologist? recommendations for proper use and safe discontinuation
    Endocrine · DOI · Europe PMC
  • 2026-09开放获取
    Oral aphthosis in children: baseline clinical features associated with diagnostic categories in a single-centre retrospective cohort
    European journal of pediatrics · DOI · Europe PMC
  • 2026-09
    Association of Hidradenitis Suppurativa and Behçet's Disease: A Case Series
    International journal of dermatology · DOI · Europe PMC
  • 2026-09
    Association between choroidal vascularity index and disease activity in Behçet uveitis using BOS24 and FFA scores
    Graefe's archive for clinical and experimental ophthalmology = Albrech · DOI · Europe PMC
  • 2026-09综述开放获取
    Dual-Biomarker Oral-Rinse Testing for aMMP-8 and Calprotectin: A Potential Adjunctive Tool for Risk Stratification and Interdisciplinary Referral in Periodontitis and Type 2 Diabetes
    Bioengineering (Basel, Switzerland) · DOI · Europe PMC
  • 2026-09开放获取
    Takayasu arteritis presenting with dysphagia and morning stiffness: a diagnostic challenge in a middle-aged woman
    The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian · DOI · Europe PMC
  • 2026-09开放获取
    Candidate Serum Biomarkers of Neural Injury and Neuroinflammation in Childhood Epilepsy: Comparison Between Controlled and Drug-Resistant Phenotypes
    Children (Basel, Switzerland) · DOI · Europe PMC
  • 2026-09综述开放获取
    Oral Pemphigus in Children and Adolescents: A Narrative Review of Published Case Reports
    Reports (MDPI) · DOI · Europe PMC
  • 2026-09开放获取
    Clinical and immunologic features of adult primary antibody deficiency according to IVIGRT exposure
    The Korean journal of internal medicine · DOI · Europe PMC
  • 2026-09
    Case Report: Fulminant Pediatric Vascular Behçet Disease Presenting With Budd-Chiari Syndrome and Extensive Multivessel Venous Thrombosis
    International journal of rheumatic diseases · DOI · Europe PMC
  • 2026-09综述病例报告开放获取
    Tubulointerstitial Nephritis With Uveitis (TINU) Syndrome: A Case Series and Review of Literature
    Nephrology (Carlton, Vic.) · DOI · Europe PMC
  • 2026-09
    Frosted-Branch Angiitis as A Primary Manifestation of Behçet Disease
    Retina (Philadelphia, Pa.) · DOI · Europe PMC
  • 2026-09病例报告
    COMBINATION OF METHOTREXATE AND MYCOPHENOLATE MOFETIL FOR REFRACTORY UVEITIS AND SCLERITIS: A Case SERIES
    Retinal cases & brief reports · 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。

尚未获批的在研药物（1 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。

  • 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。

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）