自身免疫性肺泡蛋白沉积症

定义 英文原文（暂无中文）

A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency.

别名

特发性肺泡蛋白沉积症

基本事实

遗传方式

多基因/多因素、不适用

发病年龄

青少年期、成年期、儿童期

患病率

1-9 / 1 000 000（Japan）

相关基因 1

临床表型 20

近两年的全球研究 90L2

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
  Progressive Fibrosing Lung Disease Treated With Nintedanib in a Patient With Long-Standing Autoimmune Pulmonary Alveolar Proteinosis: A Case Report
  Case reports in pulmonology · DOI · Europe PMC
• 2026-07综述
  Targeting autoimmune pulmonary alveolar proteinosis with GM-CSF: insights from clinical trials and emerging therapies
  Expert opinion on biological therapy · DOI · Europe PMC
• 2026-07病例报告
  Staged whole lung lavage in severe pulmonary alveolar proteinosis-Anaesthetic strategies for one-lung ventilation: A case report
  Indian journal of anaesthesia · DOI · Europe PMC
• 2026-07
  Distinct cytokine and chemokine alterations in bronchoalveolar fluid from patients with systemic juvenile idiopathic arthritis associated lung disease (SJIA-LD)
  Arthritis research & therapy · DOI · Europe PMC
• 2026-07综述
  Inhaled granulocyte-macrophage colony-stimulating for autoimmune pulmonary alveolar proteinosis: From pathogenesis to clinical practice
  Respiratory investigation · DOI · Europe PMC
• 2026-07
  Pulmonary Alveolar Proteinosis in Greece-Türkiye-Cyprus: Answers in a Real-Life Comparison
  Respirology (Carlton, Vic.) · DOI · Europe PMC
• 2026-06
  A Marked Improvement in Mild but Progressive Autoimmune Pulmonary Alveolar Proteinosis Treated with Inhaled Granulocyte-Macrophage Colony-Stimulating Factor Therapy: A Case Report
  Internal medicine (Tokyo, Japan) · DOI · Europe PMC
• 2026-06
  Affinity- and epitope-dependent pathogenicity of GM-CSF autoantibodies in patients with autoimmune pulmonary alveolar proteinosis
  Nature communications · DOI · Europe PMC
• 2026-06
  Comorbidity of autoimmune diseases in patients with autoimmune pulmonary alveolar proteinosis
  Respiratory investigation · DOI · Europe PMC
• 2026-06综述病例报告
  [Autoimmune pulmonary alveolar proteinosis induced by brigatinib: a case report and literature review]
  Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chine · DOI · Europe PMC
• 2026-05开放获取
  Childhood Interstitial Lung Disease-Successful Application of a Stepwise Diagnostic Classification
  Journal of clinical medicine · DOI · Europe PMC
• 2026-05病例报告开放获取
  Autoimmune Pulmonary Alveolar Proteinosis in a Patient With Chronic Disseminated Blastomycosis: A Case Report
  Cureus · DOI · Europe PMC
• 2026-04病例报告开放获取
  Beyond Pneumonia: Autoimmune Pulmonary Alveolar Proteinosis in a Pediatric Patient
  Cureus · DOI · Europe PMC
• 2026-04荟萃分析系统综述
  Efficacy and Safety of Inhaled GM-CSF in Autoimmune Pulmonary Alveolar Proteinosis: A Systematic Review and Meta-analysis of Randomized Controlled Trials
  Lung · DOI · Europe PMC
• 2026-04开放获取
  Anti-granulocyte macrophage colony-stimulating factor autoantibodies: A rising cause of infectious diseases
  PLoS pathogens · DOI · Europe PMC
• 2026-04综述开放获取
  Alveolar Lipid-Macrophage Networks at the Intersection of Pulmonary Fibrosis
  Cells · DOI · Europe PMC
• 2026-04系统综述开放获取
  The burden of autoimmune pulmonary alveolar proteinosis: a systematic review
  European respiratory review : an official journal of the European Resp · 被引 1 · DOI · Europe PMC
• 2026-04开放获取
  Using the nose as a factory to secrete proteins into the lungs or circulation
  Molecular therapy. Advances · DOI · Europe PMC
• 2026-03病例报告开放获取
  Timing of Whole Lung Lavage in Autoimmune Pulmonary Alveolar Proteinosis with Concurrent Opportunistic Infection: A Case Report and Systematic Review
  Infection and drug resistance · DOI · Europe PMC
• 2026-03开放获取
  A long-term observational study on autoimmune pulmonary alveolar proteinosis revealed a sustained and generalized decrease in serum autoantibody levels
  Orphanet journal of rare diseases · 被引 2 · 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。

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。

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 3L2

共 5 项。

• 招募中NCT06431776
  Inhaled Molgramostim in Pediatric Participants With Autoimmune Pulmonary Alveolar Proteinosis (aPAP).
  III 期 · 干预性 · 2025/10/22Savara Inc.
  德国
• 尚未开始招募NCT06989333
  Local Spraying of GM-CSF Via Bronchoscopy in the Treatment of Autoimmune Pulmonary Alveolar Proteinosis
  II 期 · 干预性 · 2025/07/01Jiuwu Bai
• 招募中NCT05761899
  Safety and Efficacy of PMT Therapy of hPAP
  I 期、II 期 · 干预性 · 2023/06/26Children's Hospital Medical Center, Cincinnati
  美国
• 招募中NCT02852928
  European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank
  观察性 · 2013/12Matthias Griese
  德国、土耳其、英国
• 可获取（拓展性用药）NCT06546098
  Molgramostim Nebulizer Solution Expanded Access Program Protocol
  拓展性用药Savara Inc.
  美国

外部标识与链接