复合型结节性硬化病
Tuberous sclerosis complex
定义 英文原文（暂无中文）
A rare neurocutaneous disorder characterized by multisystem hamartomas, most commonly involving the skin, brain, kidneys, lungs, eye, and heart, and associated with neuropsychiatric disorders.
别名
Bourneville综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Taiwan, Province of China）
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TSC1 | TSC complex subunit 1 | Disease-causing germline mutation(s) in |
| TSC2 | TSC complex subunit 2 | Disease-causing germline mutation(s) in |
| IFNG | interferon gamma | Modifying germline mutation in |
临床表型 62
极常见 99–80%8
- 肾脏异常 HP:0000077
- 非典型行为 HP:0000708
- 皮质发育不良 HP:0002539
- 皮质结节 HP:0009717
- 泛发性皮肤异常 HP:0011354
- 色素脱失斑 HP:0009719
- 癫痫发作 HP:0001250
- 室管膜下结节 HP:0009716
常见 79–30%27
- 社会行为异常 HP:0012433
- 攻击性行为 HP:0000718
- 血管纤维瘤 HP:0010615
- 孤独症 HP:0000717
- 自闭症行为 HP:0000729
- 心脏横纹肌瘤 HP:0009729
- 脉络膜视网膜色素沉着减退 HP:0040030
- 慢性肾病 HP:0012622
- 斑驳样色素减退斑 HP:0007449
- 抑郁 HP:0000716
- 癫痫性痉挛 HP:0011097
- 局灶性发作 HP:0007359
- 多动症 HP:0000752
- 冲动 HP:0100710
- 婴儿痉挛 HP:0012469
- 智力障碍 HP:0001249
- 神经发育延迟 HP:0012758
- 肺淋巴管肌瘤病 HP:0012798
- 肾囊肿 HP:0000107
- 重复强迫行为 HP:0008762
- 视网膜错构瘤 HP:0009594
- 自伤行为 HP:0100716
- 鲨鱼皮样斑 HP:0009721
- 皮肤斑块 HP:0200035
- 睡眠异常 HP:0002360
- 特定的学习障碍 HP:0001328
- 癫痫持续状态 HP:0002133
偶见 29–5%14
- 焦虑 HP:0000739
- 注意力缺陷多动障碍 HP:0007018
- 表皮样囊肿 HP:0200040
- 咯血 HP:0002105
- 肝囊肿 HP:0001407
- 高血压 HP:0000822
- 非交通性脑积水 HP:0010953
- 少言寡语 HP:0002465
- 肾血管平滑肌脂肪瘤 HP:0006772
- 肾功能不全 HP:0000083
- 呼吸窘迫 HP:0002098
- 呼吸道感染 HP:0011947
- 室管膜下巨细胞星形细胞瘤 HP:0009718
- 甲纤维瘤 HP:0100804
罕见 <4–1%13
- 主动脉瘤 HP:0004942
- 类癌 HP:0100570
- 内出血 HP:0011029
- 胰腺内分泌肿瘤 HP:0030405
- 甲状旁腺腺瘤 HP:0002897
- 甲状旁腺增生 HP:0008208
- 嗜铬细胞瘤 HP:0002666
- 垂体腺瘤 HP:0002893
- 多囊肾性发育不良 HP:0000113
- 肾细胞癌 HP:0005584
- 呼吸衰竭 HP:0002878
- 视网膜星形细胞错构瘤 HP:0012778
- 慢性肾病5期 HP:0003774
近两年的全球研究 3,396L2
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。
- 2026-08Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals
- 2026-08Everolimus for the treatment of neuropsychological deficits in tuberous sclerosis complex: findings from the TRON multicentre randomised controlled trial
- 2026-08Non-canonical mTORC1-TFEB activation promotes hepatocyte plasticity and high-grade malignancy in hepatocellular carcinoma
- 2026-08Deubiquitinase USP7 stabilizes the histone demethylase KDM5B and promotes the progression of renal fibrosis through the TSC1/mTOR axis
- 2026-08病例报告[Ureaplasma infections in the immunocompromised patient]
- 2026-08Epilepsy outcomes following single and repeat epilepsy surgeries in tuberous sclerosis complex
- 2026-08病例报告[Extremely severe pulmonary lymphangioleiomyomatosis with combined brain, liver, kidney, and lung involvement: a case report]
- 2026-08Factors Affecting Pregnancy Outcomes in Fetal Cardiac Rhabdomyoma: A Systematic Review and Analysis of 859 Cases
- 2026-07Dermatology patient-derived health utility of facial angiofibroma associated with tuberous sclerosis complex
- 2026-07Attrition in a telehealth caregiver-mediated behavioral intervention for children with tuberous sclerosis complex: A mixed-methods study
- 2026-07Tuberous Sclerosis Complex (Bourneville-Pringle Disease) With Congenitally Right Solitary Kidney in a 14-Year-Old Male Adolescent
- 2026-07From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous Sclerosis Complex
- 2026-07The Spectrum of Pulmonary Perivascular Epithelioid Cell Tumors (PEComa)
- 2026-07Everolimus initiated in the neonatal period for refractory seizures associated with tuberous sclerosis complex: long-term clinical outcome
- 2026-07Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development
- 2026-07Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development
- 2026-07Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis
- 2026-07Neuronal expression of retinoid-related orphan receptor gamma (RORγ) and revisiting its role in the central nervous system
- 2026-07综述A systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Nonseizure outcomes
- 2026-07病例报告Subependymal Giant Cell Astrocytoma Without Clinical Evidence of Tuberous Sclerosis Complex: Diagnostic and Molecular Insights-Case Report
国家医保药品目录中点名本病的药品 2L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 依维莫司片乙类西药限：1.既往接受舒尼替尼或索拉非尼治疗失败的晚期肾细胞癌成人患者；2.不可切除的、局部晚期或转移性的、分化良好的(中度分化或高度分化)进展期胰腺神经内分泌瘤成人患者；3.无法手术切除的、局部晚期或转移性的、分化良好的、进展期非功能性胃肠道或肺源神经内分泌肿瘤(NET)成人患者；4.需要治疗干预但不适于手术切除的结节性硬化症(TSC)相关的室管膜下巨细胞星形细胞瘤(SEGA)成人和儿童患者；5.不需立即手术治疗的结节性硬化症相关的肾血管平滑肌脂肪瘤(TSC-AML)成人患者；6.来曲唑或阿那曲唑治疗失败后的激素受体阳性、表皮生长因子受体-2阴性、绝经后晚期女性乳腺癌患者。
- 西罗莫司凝胶乙类西药限成人和6岁及以上儿童患者的结节性硬化症相关面部血管纤维瘤。
境外已获批用于本病的药物 5L2
欧盟 2 项、美国 3 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。
- Votubia欧盟2011-09-02everolimus官方记录
- Hyftor欧盟2023-05-15sirolimus官方记录
- Afinitor美国2010-10-29everolimus官方记录
- Epidiolex美国2020-07-31cannabidiol官方记录
- Hyftor美国2022-03-22sirolimus官方记录
已获孤儿药资格、尚未获批的在研药物（8 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。
- sirolimus欧盟2015-10-09Treatment of tuberous sclerosis官方记录
- ganaxolone欧盟2021-10-15Treatment of tuberous sclerosis官方记录
- rapamycin美国2007-03-20Treatment of tuberous sclerosis complex官方记录
- everolimus ointment美国2015-09-10Topical treatment of Tuberous Sclerosis Complex-related skin lesions官方记录
- sirolimus美国2019-08-26Treatment of tuberous sclerosis complex官方记录
- ganaxolone美国2021-08-12Treatment of Tuberous Sclerosis Complex (TSC)官方记录
- vigabatrin美国2024-11-02treatment of tuberous sclerosis complex官方记录
- a potent, CNS active selective inhibitor of mTORC1美国2026-02-03treatment of tuberous sclerosis complex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 9L2
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。
当前没有检索到登记为可入组的试验。
其他状态的试验（9 项）
- 已完成NCT07327164Precision Medicine for Neurocutaneous Syndromes in Western China中国研究中心 1 个：Chengdu
- 已终止NCT03363763Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex中国研究中心 1 个：Shanghai
- 状态未知NCT03356769Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex中国研究中心 1 个：Beijing
- 已完成NCT03650452A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies中国研究中心 6 个：Beijing、Changsha、Shanghai、Shenzhen
- 已完成NCT03525834Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex.中国研究中心 4 个：Beijing、Chengdu、Shanghai、Wuhan
- 已完成NCT04198207The Effectiveness and Safety of Vagus Nerve Stimulation for TRE中国研究中心 1 个：Beijing
- 进行中·不再招募NCT04198181The Effectiveness and Safety of Resective Epilepsy Surgery for TRE中国研究中心 1 个：Beijing
- 已完成NCT05323734Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy中国研究中心 7 个：Beijing、Changchun、Chengdu、Guiyang、Jiangxi
- 已终止NCT05604170Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy中国研究中心 5 个：Beijing、Jilin City
中国境外的在招试验 25L2
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10澳大利亚3意大利2加拿大2荷兰2罗马尼亚1爱尔兰1西班牙1波兰1墨西哥1法国1英国1
共 25 项。
- 尚未开始招募NCT07680322A Phase 2 Study of the Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy
- 招募中NCT07287202Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)澳大利亚
- 招募中NCT07575347Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)罗马尼亚
- 招募中NCT07561957A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines爱尔兰
- 招募中NCT07369505Sapu003 in Advanced mTOR-sensitive Solid Tumors澳大利亚
- 招募中NCT07304856Role of Extracellular Vesicles as Biomarkers of Pulmonary Involvement in Patients With Lymphangioleiomyomatosis and Tuberous Sclerosis Complex意大利
- 招募中NCT06081348Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders加拿大
- 招募中NCT07403266Treatment With Full-spectrum Cannabis Extract of Refractory Epilepsy Associated With Tuberous Sclerosis Complex (TSC)西班牙
- 招募中NCT06330350Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling荷兰
- 招募中NCT06105736Regulating Together in Tuberous Sclerosis Complex美国
- 招募中NCT06160310Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)美国
- 招募中NCT05534672Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With Tuberous Sclerosis Complex波兰
- 招募中NCT06523582Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients墨西哥
- 招募中NCT05469373ESIS in Pediatric DRE美国
- 招募中NCT05104983Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study美国
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）