Erdheim-Chester病

定义 英文原文（暂无中文）

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.

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

临床表型 41

近两年的全球研究 467L2

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。

• 2026-07
  Local disease control in patients with Erdheim-Chester disease treated with external beam radiation therapy
  British journal of haematology · DOI · Europe PMC
• 2026-07综述
  Cerebrovascular involvement in Erdheim-Chester disease: a case report and systematic literature review
  Journal of clinical neuroscience : official journal of the Neurosurgic · DOI · Europe PMC
• 2026-07
  Erdheim-Chester Disease Presenting as Optic Neuritis: A Case Report and Review of the Literature
  Ophthalmic plastic and reconstructive surgery · DOI · Europe PMC
• 2026-07
  Erdheim-Chester Disease Presenting as a Subdural Hematoma
  The Canadian journal of neurological sciences. Le journal canadien des · DOI · Europe PMC
• 2026-07
  Clinical utility of copeptin in histiocytosis-associated arginine vasopressin deficiency: a report of three cases
  Annals of hematology · DOI · Europe PMC
• 2026-07病例报告
  Massive bilateral perirenal infiltration in Erdheim-Chester disease
  Lancet (London, England) · DOI · Europe PMC
• 2026-07
  Diagnostic impact of 18F-FDG PET/MRI over PET/CT in histiocytoses: a prospective comparative study
  European journal of nuclear medicine and molecular imaging · DOI · Europe PMC
• 2026-07病例报告
  Monocytosis and Clonal Hematopoiesis in Peripheral Blood as Indicators of Myeloid Neoplasm in Erdheim-Chester Disease
  Clinical laboratory · DOI · Europe PMC
• 2026-06
  Clinico-Pathologic Features of Adult Erdheim-Chester Disease in South Korea: A Multicenter Retrospective Study (KCSG LY22-15)
  Cancer research and treatment · 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开放获取
  IgG4-related inflammatory pseudotumor presenting with refractory seizures: a diagnostic pitfall
  Arquivos de neuro-psiquiatria
• 2026-06
  Glomeruloid haemangioma in Erdheim-Chester disease: An atypical skin manifestation associated with elevated vascular endothelial growth factor-A levels
  British journal of haematology · DOI · Europe PMC
• 2026-06
  Diagnostic delay in histiocytic neoplasms and its association with local resource deprivation
  Haematologica · DOI · Europe PMC
• 2026-06开放获取
  The Challenge of Differentiating Mixed Histiocytosis: A Case Report
  Case reports in hematology · DOI · Europe PMC
• 2026-06
  Outcome of treatment with trametinib in adults with histiocytic neoplasms in the United Kingdom
  British journal of haematology · DOI · Europe PMC
• 2026-06综述
  Cardiovascular Involvement in Erdheim-Chester Disease Presenting as Pericardial Tamponade: A Case Report and Multimodality Imaging Review
  Journal of clinical medicine · DOI · Europe PMC
• 2026-06病例报告开放获取
  Rosai-Dorfman disease with &lt;i&gt;MAP2K1&lt;/i&gt; mutation: therapeutic response to MEK inhibition after failure of conventional therapy
  Oxford medical case reports · DOI · Europe PMC
• 2026-06病例报告开放获取
  Bilateral extensive adult-onset limbal xanthogranuloma invading the deep corneal stroma: a case report and literature review
  Frontiers in medicine · DOI · Europe PMC
• 2026-06病例报告开放获取
  Pediatric orbital IgG4-related disease: A case series
  American journal of ophthalmology case reports · DOI · Europe PMC
• 2026-06病例报告开放获取
  Extranodal Rosai-Dorfman disease with bilateral renal involvement: A diagnostic challenge
  Radiology case reports · DOI · Europe PMC

境外已获批用于本病的药物 1L2

欧盟 0 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Zelboraf美国2017-11-06
  vemurafenib
  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 2L2

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。

中国境外的在招试验 11L2

共 11 项。

• 招募中NCT07440290
  DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
  II 期、III 期 · 干预性 · 2026/04/01Cancer Research UK
  英国
• 尚未开始招募NCT07173010
  Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
  观察性 · 2025/09Assiut University
• 招募中NCT06712810
  Q702 for the Treatment of Patients With Hematologic Malignancies
  I 期 · 干预性 · 2025/08/27Mayo Clinic
  美国
• 招募中NCT07454343
  ECD-Score: a Study on Erdheim-Chester Disease
  观察性 · 2024/12/23Meyer Children's Hospital IRCCS
  法国、意大利、英国、美国
• 招募中NCT05768178
  DETERMINE Trial Treatment Arm 05: Vemurafenib in Combination With Cobimetinib in Adult Patients With BRAF Positive Cancers.
  II 期、III 期 · 干预性 · 2023/03/01Cancer Research UK
  英国
• 招募中NCT05915208
  Histiocytic Disorder Follow-up Study
  观察性 · 2022/09/01University of Alabama at Birmingham
  美国
• 招募中NCT05093335
  In-Human CXCR4 Imaging of Hematologic and Solid Tumors Using [68Ga]-Pentixafor-PET
  早期 I 期 · 干预性 · 2021/10/01Memorial Sloan Kettering Cancer Center
  美国
• 招募中NCT04079179
  Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders
  II 期 · 干预性 · 2021/04/19Carl Allen
  美国
• 招募中NCT03990428
  Supportive Care Needs of Caregivers of People With Erdheim-Chester Disease and Other Histiocytic Diseases
  观察性 · 2019/06/14Memorial Sloan Kettering Cancer Center
  美国
• 招募中NCT03329274
  Registry for Patients With Erdheim-Chester Disease and Other Histiocytoses
  观察性 · 2017/10/26Memorial Sloan Kettering Cancer Center
  美国
• 招募中NCT02285582
  International Rare Histiocytic Disorders Registry (IRHDR)
  观察性 · 2014/10The Hospital for Sick Children
  阿根廷、加拿大、捷克、德国、意大利、荷兰、波兰、西班牙 等 9 国

外部标识与链接