淋巴管肌瘤病
Lymphangioleiomyomatosis
定义 英文原文（暂无中文）
A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).
别名
LAM
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TSC1 | TSC complex subunit 1 | Disease-causing somatic mutation(s) in |
| TSC2 | TSC complex subunit 2 | Disease-causing somatic mutation(s) in |
临床表型 36
极常见 99–80%6
- 淋巴系统异常 HP:0100763
- 胸痛 HP:0100749
- 咳嗽 HP:0012735
- 呼吸困难 HP:0002094
- 肺浸润 HP:0002113
- 限制性通气功能障碍 HP:0002091
常见 79–30%11
- 腹痛 HP:0002027
- 女性内生殖器形态异常 HP:0000008
- 肺不张 HP:0100750
- 乳糜胸 HP:0010310
- 气肿 HP:0002097
- 血尿 HP:0000790
- 淋巴结肿大 HP:0002716
- 气胸 HP:0002107
- 肺淋巴管肌瘤病 HP:0012798
- 肾血管平滑肌脂肪瘤 HP:0006772
- 甲纤维瘤 HP:0100804
偶见 29–5%19
- 尿液颜色异常 HP:0012086
- 皮肤着色异常 HP:0001000
- 腹水 HP:0001541
- 乳糜心包 HP:0011852
- 认知功能损害 HP:0100543
- 疲乏 HP:0012378
- 发热 HP:0001945
- 胃肠道出血 HP:0002239
- 咯血 HP:0002105
- 脑积水 HP:0000238
- 淋巴水肿 HP:0001004
- 斑疹 HP:0012733
- 多发性肾囊肿 HP:0005562
- 视神经萎缩 HP:0000648
- 反复呼吸道感染 HP:0002205
- 肾肿瘤 HP:0009726
- 视网膜错构瘤 HP:0009594
- 癫痫发作 HP:0001250
- 鲨鱼皮样斑 HP:0009721
近两年的全球研究 808L2
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病例报告[Extremely severe pulmonary lymphangioleiomyomatosis with combined brain, liver, kidney, and lung involvement: a case report]
- 2026-07The Spectrum of Pulmonary Perivascular Epithelioid Cell Tumors (PEComa)
- 2026-07Correction: Bähr et al. Repurposing Nitazoxanide for Potential Treatment of Rare Disease Lymphangioleiomyomatosis. <i>Biomolecules</i> 2024, <i>14</i>, 1236
- 2026-06Decoding the Lymphangioleiomyomatosis (LAM) Niche Microenvironment <i>via</i> Integrative Analysis of Single Cell Multiomics and Spatial Transcriptomics
- 2026-06A Multicenter Registry for Rare Interstitial Lung Diseases in Korea: Baseline Characteristics and Clinical Outcomes
- 2026-06开放获取Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report
- 2026-06病例报告开放获取A case of surgically treated recurrent spontaneous pneumothorax during pregnancy
- 2026-06Sex-specific epidemiological and clinical differences in spontaneous pneumothorax: A cross-sectional cohort study in Japan
- 2026-06Long-term outcomes of sirolimus therapy in sporadic and tuberous sclerosis complex-associated lymphangioleiomyomatosis: a retrospective cohort study
- 2026-06Interleukin-8 and extracellular vesicles spread senescence in Lymphangioleiomyomatosis microenvironment
- 2026-06病例报告Birt-Hogg-Dubé syndrome: a hidden genetic cause of recurrent pneumothorax in a non-smoker
- 2026-06GPNMB immunohistochemistry distinguishes diagnostically challenging cases of lymphangioleiomyomatosis from other mesenchymal neoplasms presenting with cystic lung metastases
- 2026-06开放获取Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex
- 2026-06开放获取Clinical outcomes of non-traumatic chylothorax at a Singapore tertiary referral hospital
- 2026-06综述Menopause in rare diseases: Shared research concerns and the case for a dedicated subfield
- 2026-06开放获取Oncofertility outcomes in early-onset patients with non-breast solid malignancies: a systematic review
- 2026-06综述开放获取Transcriptional and epigenetic regulation of autophagy: mechanisms, disease relevance and therapeutic opportunities
- 2026-06病例报告开放获取A unilateral presentation of papillary renal cell carcinoma in a pediatric patient with tuberous sclerosis complex: A rare case report
- 2026-06Neural crest cell signatures drive tumorigenesis in tuberous sclerosis complex and lymphangioleiomyomatosis
- 2026-06综述开放获取Thoracic Endometriosis and Catamenial Pneumothorax: Imaging Pitfalls and an Integrated Diagnostic Approach
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。
「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。
已获孤儿药资格、尚未获批的在研药物（2 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。
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 4L2
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NCT03193892A National Registry on Chinese Patients With Lymphangioleiomyomatosis中国研究中心 1 个：Beijing
其他状态的试验（3 项）
- 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
- 状态未知NCT04273334Application of 68Ga NEB PET Imaging in the Diagnosis and Evaluation of Lymphatic Disorders中国研究中心 1 个：Beijing
- 状态未知NCT05087134Characterizing LAM With 11C-Choline PET/CT中国研究中心 1 个：Beijing
中国境外的在招试验 10L2
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6意大利1中国台湾1加拿大1法国1
CT.gov 报告命中 10 项，此处取回并展示最近的 9 项。
- 招募中NCT06889168Evaluating the Long-term Safety and Tolerability of Imatinib in Patients With Lymphangioleiomyomatosis (LAM)美国
- 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NCT06405997The Genotype and Phenotype of Lymphangioleiomyomatosis中国台湾
- 招募中NCT06160310Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)美国
- 招募中NCT05676099TSC Biosample Repository and Natural History Database加拿大、美国
- 招募中NCT02432560Safety and Durability of Sirolimus for Treatment of LAM美国
- 招募中NCT01799538Nebulized or Inhaled Albuterol for Lymphangioleiomyomatosis美国
- 招募中NCT01484236National Lymphangioleiomyomatosis Registry, France法国
- 招募中NCT00001465Study of the Disease Process of Lymphangioleiomyomatosis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）