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 99L2

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预印本
  Successful Management of Autoimmune Pulmonary Alveolar Proteinosis Complicating Rheumatoid Arthritis with Whole-lung Lavage and De-escalation of Anti-rheumatic Therapy: A Report of Two Cases
  · DOI
• 2026-09
  Molgramostim improves exercise distance and duration in autoimmune pulmonary alveolar proteinosis: exploratory IMPALA-2 trial data
  Annals of the American Thoracic Society · DOI · Europe PMC
• 2026-09开放获取
  Autoimmune pulmonary alveolar proteinosis may not be invariably lifelong: exponential decay of anti-granulocyte-macrophage colony-stimulating factor autoantibodies over more than a decade
  ERJ open research · DOI · Europe PMC
• 2026-09开放获取
  Comments on "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
• 2026-09
  Nintedanib for progressive pulmonary fibrosis associated with sarcoidosis: a retrospective preliminary observational report
  Respiratory investigation · DOI · Europe PMC
• 2026-08
  Corrigendum to 'Inhaled granulocyte-macrophage colony-stimulating factor for autoimmune pulmonary alveolar proteinosis: From pathogenesis to clinical practice' [Respir Investig 64/5 (2026) 101486]
  Respiratory investigation · DOI · Europe PMC
• 2026-08病例报告开放获取
  A case of autoimmune pulmonary alveolar proteinosis in a patient with chronic nicotine vaping exposure
  Respiratory medicine case reports · DOI · Europe PMC
• 2026-07开放获取
  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开放获取
  Autoantibodies in chronic non-infectious respiratory diseases: a scoping review
  Frontiers in immunology · DOI · Europe PMC
• 2026-07综述开放获取
  Target-Product and Translational Design Principles for Inhalable RNA Nanomedicines
  Pharmaceutics · 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病例报告开放获取
  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开放获取
  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 factor for autoimmune pulmonary alveolar proteinosis: From pathogenesis to clinical practice
  Respiratory investigation · DOI · Europe PMC
• 2026-07综述开放获取
  Fungal Infections in Disorders of Inborn Errors of Immunity
  Clinical reviews in allergy & immunology · 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开放获取
  Association between serum anti-granulocyte-macrophage colony-stimulating factor autoantibodies and nintedanib-induced diarrhea in interstitial lung disease: a retrospective study
  Journal of thoracic disease · 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开放获取
  Affinity- and epitope-dependent pathogenicity of GM-CSF autoantibodies in patients with autoimmune pulmonary alveolar proteinosis
  Nature communications · DOI · Europe PMC
• 2026-06综述开放获取
  Developmental Progress and Future Potential for Inhaled Biologics in the Treatment of Respiratory Diseases
  Drugs · 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 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