朗格罕细胞组织细胞增生症
Langerhans cell histiocytosis
定义 英文原文（暂无中文）
A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues.
别名
朗格汉斯细胞肉芽肿病
基本事实
- 遗传方式
- 未知
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MAP2K1 | mitogen-activated protein kinase kinase 1 | Disease-causing germline mutation(s) in |
| NRAS | NRAS proto-oncogene, GTPase | Disease-causing somatic mutation(s) in |
临床表型 27
极常见 99–80%2
- 骨痛 HP:0002653
- 骨质溶解 HP:0002797
常见 79–30%7
- 咳嗽 HP:0012735
- 湿疹样皮炎 HP:0000964
- 发热 HP:0001945
- 肝脏肿大 HP:0002240
- 淋巴结肿大 HP:0002716
- 皮疹 HP:0000988
- 脾肿大 HP:0001744
偶见 29–5%15
- 共济失调 HP:0001251
- 尿崩症 HP:0000873
- 构音障碍 HP:0001260
- 生殖器溃疡 HP:0003249
- 生长延迟 HP:0001510
- 听力受损 HP:0000365
- 低蛋白血症 HP:0003073
- 白细胞减少症 HP:0001882
- 智能衰退 HP:0001268
- 口腔溃疡 HP:0000155
- 肺朗格汉斯细胞组织细胞增多症 HP:0034769
- 循环生长激素水平降低 HP:0034323
- 自发性气胸 HP:0002108
- 血小板减少症 HP:0001873
- 体重减轻 HP:0001824
罕见 <4–1%3
- 肝功能衰竭 HP:0001399
- 呼吸功能不全 HP:0002093
- 硬化性胆管炎 HP:0030991
近两年的全球研究 1,835L2
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。
- 2026-09系统综述病例报告Isolated clival Langerhans cell histiocytosis in a pediatric patient: systematic review and illustrative case report
- 2026-09Distinctive dermoscopic features of early juvenile xanthogranuloma within the benign cephalic histiocytosis spectrum
- 2026-09Dabrafenib plus trametinib in BRAF V600E-mutant Erdheim-Chester disease: a case series including CNS involvement
- 2026-09开放获取SCTS Annual Meeting 2025: Abstracts
- 2026-09开放获取Adult-Onset Central Nervous System Erdheim-Chester Disease Successfully Treated With Cladribine and Cytarabine: Case Report and Literature Review
- 2026-09系统综述病例报告Impulsivity, Compulsivity, Social Inappropriateness, and Other Neuropsychiatric Features in Cerebellar Histiocytosis
- 2026-09Langerhans Cell Histiocytosis of the Stomach in an Adult: A Mimicker of Gastric Antral Vascular Ectasia
- 2026-09病例报告Adult-Onset Langerhans Cell Histiocytosis With Calvarial and Hypothalamic Involvement: Two Cases
- 2026-09开放获取The Childhood Liver Disease Research Network's prospective characterization of pediatric primary sclerosing cholangitis
- 2026-09开放获取Perioperative and Mid-Term Outcomes of Primary Versus Redo Pericardiectomy for Constrictive Pericarditis: A Single-Center Retrospective Cohort Study
- 2026-09开放获取Proceedings of the 33rd European Paediatric Rheumatology Congress
- 2026-09综述开放获取Infiltrative and inflammatory systemic disorders involving the pituitary gland
- 2026-09综述开放获取Precision immunomodulation for pediatric hemophagocytic lymphohistiocytosis in intensive care
- 2026-09病例报告A large multilobulated cutaneous nodule in infancy
- 2026-09病例报告Solitary Indeterminate Cell Histiocytosis Presenting as a Reddish Nodule on the Abdomen of a 4-Year-Old Boy: Clinicopathologic Correlation and Electron Microscopy Findings
- 2026-09开放获取Utilization of Carbon Fiber Spinal Instrumentation in Primary Spinal Tumors: Outcome Analysis from the AO Spine Primary Tumor Research and Outcomes Network
- 2026-09开放获取Parenteral Treprostinil as an Effective Bridge to Lung Transplant in Patients with Severe Pulmonary Hypertension Associated with Interstitial Lung Disease
- 2026-09开放获取Cranial MRI in Girls With Central Precocious Puberty: Clinical Characteristics and Predictors of Abnormal Findings
- 2026-09综述开放获取Langerhans cell histiocytosis: molecular mechanisms underlying pathogenesis and emerging targeted therapeutics
- 2026-09Prognostic impact of risk organ involvement and metabolic parameters assessed by staging 18F-FDG PET/CT in pediatric Langerhans cell histiocytosis
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。
- vemurafenib欧盟2016-05-30Treatment of Langerhans' cell histiocytosis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。
在中国开展的临床试验 57L2
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 18
- 招募中NCT03491605Surveillance and Tracking the Outcomes of Chronic Latent EBV Infection中国研究中心 1 个：Wuhan
- 招募中NCT05936086A Randomized Controlled Study of High-dose Cyclophosphamide Induction Therapy in Adult Patients With HLH中国研究中心 1 个：Chongqing
- 尚未开始招募NCT05988177Efficacy and Safety of Carrimycin Tablets in HLH Patients With Carbapenem-resistant Infections中国研究中心 1 个：Beijing
- 招募中NCT05997602To Evaluate the Efficacy, Safety, and PK Characteristics of FCN-159 in Pediatric Patients With Refractory/Recurrent LCH中国研究中心 11 个：Beijing、Chengdu、Chongqing、Guangzhou、Hangzhou、Shenzhen 等 9 地
- 招募中NCT06078969Oral Prednisone in Treating LCH of Bone in Childhood and Adolescence中国研究中心 1 个：Shanghai
- 尚未开始招募NCT06131489Segmental Resection Combined With DEP Regimen for EBV-HLH Patients With Intestinal Involvement中国研究中心 1 个：Beijing
- 招募中NCT06614998Establishment of an Early Warning Screening System for Hemophagocytic Lymphohistiocytosis a Multi-center, Prospective Study中国研究中心 1 个：Xuzhou
- 仅邀请入组NCT06902792Adebrelimab Combined With Trametinib in the Treatment of Refractory Recurrent Langerhans Cell Histiocytosis in Children and Adolescents中国研究中心 1 个：Wenzhou
- 招募中NCT07187193Efficacy and Safety of Low-Dose Cytarabine Combined With Thalidomide in Adult Patients With Untreated LCH中国研究中心 1 个：Beijing
- 招募中NCT07187167Efficacy and Safety of the RD Regimen(Lenalidomide, Dexamethasone) for Rosai-Dorfman Disease中国研究中心 1 个：Beijing
- 尚未开始招募NCT06951971Dose-modified Emapalumab and Ruxolitinib (E-Ru) Regimens for Hemophagocytic Lymphohistiocytosis中国研究中心 1 个：Suzhou
- 招募中NCT07022834Real-world Study of Darafenib or Trametinib and Clofarabine for High-risk/Recurrent/Refractory Langerhans Cell Histiocytosis in Children中国研究中心 1 个：Chengdu
- 招募中NCT07339345Prospective Single-Arm Clinical Trial of GO Regimen for HLH.中国研究中心 1 个：Beijing
- 招募中NCT07270835Zanubrutinib Combined With Rituximab in the Treatment of Secondary HLH in B-cell Lymphoma中国研究中心 1 个：Suzhou
- 招募中NCT07431060Modified LCH-III Regimen With or Without Luvometinib for Multisystem Pediatric Langerhans Cell Histiocytosis中国研究中心 11 个：Chengdu、Guiyang、Hefei、Jiangxi、Kunming、Nanning 等 9 地
- 招募中NCT07525466Combination of Mitoxantrone Liposome and Etoposide, Dexamethasone, Pegaspargase and Golidocitinib (MEPL-G) in the Treatment of NK/T-cell Lymphoma Associated Hemophagocytic Lymphohistiocytosis (NKTCL-HLH)中国研究中心 1 个：Beijing
- 招募中NCT07371182Luvometinib in Pediatric SS-LCH With Special-site Single/Multifocal Bone Lesions中国研究中心 11 个：Chengdu、Guiyang、Hefei、Kunming、Nanchang、Nanning 等 9 地
- 尚未开始招募NCT07728201Response-adapted Luvometinib With or Without Cytarabine in Langerhans Cell Histiocytosis中国研究中心 1 个：Shanghai
其他状态的试验（39 项）
- 状态未知NCT05284942Central China Rosai-Dorfman Disease Registry中国研究中心 1 个：Wuhan
- 状态未知NCT01818908Trial of DA-EPOCH Regimen for NHL With HLH中国研究中心 4 个：Changzhou、HuaiAn、Nanjing、Wuxi
- 已完成NCT02389400Methotrexate and Cytosine in Adult Langerhans Cell Histiocytosis中国研究中心 1 个：Beijing
- 状态未知NCT02862054Splenectomy as a Treatment for Patient With Relapsed Haemophagocytic Lymphohistiocytosis of Unknown Etiology中国研究中心 1 个：Beijing
- 状态未知NCT02631109L-DEP Regimen as a Salvage Therapy for Refractory Epstein Barr Virus-induced Hemophagocytic Lymphohistiocytosis中国研究中心 1 个：Beijing
- 状态未知NCT02912702L-DEP as an Initial Treatment for EBV-HLH中国研究中心 1 个：Beijing
- 状态未知NCT03795909Ruxolitinib Combined With Dexamethasone for HLH中国研究中心 1 个：Beijing
- 状态未知NCT03201627Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease中国研究中心 1 个：Shanghai
- 状态未知NCT03533790DEP-Ru Regimen as a Salvage Therapy for HLH中国研究中心 1 个：Beijing
- 状态未知NCT04773366A Prospective Study for the Treatment of Children With Newly Diagnosed LCH Using a Cytarabine Contained Protocol中国研究中心 1 个：Shanghai
- 状态未知NCT03742115Etoposide in the First-line Treatment of Adult EBV-HLH中国研究中心 1 个：Beijing
- 状态未知NCT04120090Ruxolitinib as a Salvage Therapy for Hemophagocytic Lymphohistiocytosis中国研究中心 1 个：Beijing
- 状态未知NCT04077905Pegylated Liposomal Doxorubicin as a Induction Therapy for Lymphoma Induced Hemophagocytic Lymphohistiocytosis.中国研究中心 1 个：Beijing
- 状态未知NCT04121819AraC for Newly Diagnosed Adult Langerhans Cell Histiocytosis中国研究中心 1 个：Beijing
- 状态未知NCT04120519Thalidomide, Cyclophosphamide and Dexamethasone for Recurrent/Refractory Adult Langerhans Cell Histiocytosis中国研究中心 1 个：Beijing
- 已终止NCT04198818A Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patient With Advanced Tumors中国研究中心 1 个：Shanghai
- 状态未知NCT04405375GPED Regimen for Relapsed/Refractory or Advanced ENKTCL中国研究中心 1 个：Beijing
- 已完成NCT03910621Safety and Efficacy of Miglustat in Chinese NPC Patients中国研究中心 2 个：Beijing、Shanghai
- 状态未知NCT04326348A Study of TQ05105 Tablets in Subjects With Hemophagocytic Lymphohistiocytosis（HLH）中国研究中心 1 个：Beijing
- 状态未知NCT04500886Evaluate the Efficacy and Safety of PEG-rhG-CSF in Patients With Hemophagocytic Syndrome中国研究中心 1 个：Beijing
- 状态未知NCT05164978DEP Combine With PD-1 Antibody as an Treatment for EBV-HLH中国研究中心 1 个：Beijing
- 状态未知NCT04999878A Prospective Clinical Study of Ruxolitinib and Etoposide Combined With DDGP Regimen (RUE-DDGP) in Induction Therapy of T/NK Cell Lymphoma-associated Hemophagocytic Syndrome.中国研究中心 1 个：Zhengzhou
- 状态未知NCT04924647Lenalidomide and Dexamethasone for Rosai-Dorfman Disease中国研究中心 1 个：Beijing
- 状态未知NCT05137522Chidamide Combines With VP-16 and Methylprednisolone in the Treatment of HLH中国研究中心 1 个：Beijing
- 状态未知NCT05008666Induction Chemotherapy Sequential Sintilimab Combined With Dual Epigenetic Drugs for ENKTL-HLH中国研究中心 1 个：Guangzhou
- 状态未知NCT05092815The Efficacy and Safety of HLX208 in Adult Langerhans Cell Histiocytosis (LCH) and Erdheim-Chester Disease (ECD) With BRAF V600E Mutation中国研究中心 1 个：Beijing
- 状态未知NCT05353179Study on Pharmacokinetics of Meperizumab Injection and NUCALA® in Healthy Male Volunteers中国研究中心 1 个：Changchun
- 状态未知NCT05315336L-DEP/DEP Regimen and PD-1 Antibody as a Treatment for Relapse/Refractory EBV-HLH中国研究中心 1 个：Beijing
- 状态未知NCT05546060Efficacy and Safety of Venetoclax Combined With Dexamethasone and Etoposide in HLH中国研究中心 1 个：Beijing
- 状态未知NCT05491304Cytokine Guided Risk Stratification and Treatment in Pediatric Hemophagocytic Lymphohistiocytosis中国研究中心 1 个：Hangzhou
- 状态未知NCT05477446Safety and Efficacy of CD207 Targeted CAR-T Cell Therapy in Patients With R/R Langerhans Cell Histiocytosis中国研究中心 1 个：Beijing
- 状态未知NCT05600959Sensitivity and Specificity of Cytokines in the Diagnosis of Lymphoma-associated HLH中国研究中心 1 个：Beijing
- 状态未知NCT05677178Response Prediction in EBV-HLH Using Metabonomics Analysis中国研究中心 1 个：Beijing
- 已完成NCT05744063A Post-authorization Study to Describe the Safety and Efficacy of Emapalumab for the Treatment of pHLH in Treatment Experienced Chinese Patients中国研究中心 6 个：Beijing、Chongqing、Guangzhou、Nanjing、Shanghai、Zhengzhou
- 进行中·不再招募NCT07011329Brain Alterations Based on Multiplex MR Imaging in Nasopharyngeal Carcinoma Patients After Treatment, and Their Correlation With Clinical Cognitive Scores.中国研究中心 1 个：Wuhan
- 已完成NCT07034209A Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacokinetic Characteristics, and Immunogenicity of Plonmarlimab in Subjects With Rheumatic and Immunological Disease-associated Haemophagocytic Lymphohistiocytosis (HLH) (Also Known as Macrophage Activation Syndrome (MAS))中国研究中心 6 个：Beijing、Nanjing、Shanghai
- 已完成NCT05775705L-DEP Regimen Combined With PD-1 Antibody as Induction Therapy for Epstein-Barr Virus-positive LA-HLH中国研究中心 1 个：Beijing
- 状态未知NCT06491719A Study on Efficacy and Safety of iNK Cells for CAEBV /EBV-HLH After Allo-HSCT中国研究中心 1 个：Beijing
- 进行中·不再招募NCT07204041Efficacy and Safety of XTD Regimen (Selinexor, Thalidomide and Dexamethasone) in Adult Patients With Relapsed/Refractory LCH中国研究中心 1 个：Beijing
中国境外的在招试验 69L2
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30英国8法国8澳大利亚7加拿大5德国5意大利5西班牙5波兰5巴西3阿根廷3葡萄牙3瑞士3印度2另有 14 个国家/地区
CT.gov 报告命中 69 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07660783Naive T Cell Deplete Grafts for GVHD Prevention in Non-Malignant Diseases美国
- 尚未开始招募NCT07626398All-Trans Retinoic Acid for the Treatment of Hemophagocytic Lymphohistiocytosis
- 招募中NCT07440290DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.英国
- 尚未开始招募NCT07497438Comparison of Two Etoposide Initiation Strategies for Severe Hemophagocytic Lymphohistiocytosis法国
- 招募中NCT07399704A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease巴西
- 招募中NCT06712810Q702 for the Treatment of Patients With Hematologic Malignancies美国
- 招募中NCT07082725A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)阿根廷、澳大利亚、巴西、加拿大、德国、印度、意大利、墨西哥 等 15 国
- 招募中NCT07054515A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis阿根廷、澳大利亚、巴西、加拿大、法国、德国、印度、意大利 等 17 国
- 尚未开始招募NCT06985212National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children法国
- 尚未开始招募NCT06869499Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease法国
- 尚未开始招募NCT06734624The Microbiome in Blood Cancer and HLH英国
- 招募中NCT07454343ECD-Score: a Study on Erdheim-Chester Disease法国、意大利、英国、美国
- 招募中NCT05762640Ruxolitinib as First Line Treatment in Primary Haemophagocytic Lymphohistiocytosis (R-HLH)法国
- 招募中NCT06160791Ruxolitinib With De-Intensified HLH-94 for the Treatment of Hemophagocytic Lymphohistiocytosis (HLH)美国
- 尚未开始招募NCT06504030Modified DEP Regimens for the Treatment of Hemophagocytic Lymphohistiocytosis
外部标识与链接
OrphanetOMIM:604856MONDO:0018310GARD:6858ICD-10 C96.0、C96.5、C96.6ICD-11 2B31.2、2B31.20、2B31.2YClinicalTrials.gov 检索
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）