Department of Respiratory Medicine, Competence Centre for Rare Pulmonary Diseases, CHU Rennes, Univ Rennes, Rennes, France.
IRSET UMR108, Univ Rennes, Rennes, France.
Respirology. 2020 Aug;25(8):816-826. doi: 10.1111/resp.13831. Epub 2020 May 3.
PAP is an ultra-rare disease in which surfactant components, that impair gas exchange, accumulate in the alveolae. There are three types of PAP. The most frequent form, primary PAP, includes autoimmune PAP which accounts for over 90% of all PAP, defined by the presence of circulating anti-GM-CSF antibodies. Secondary PAP is mainly due to haematological disease, infections or inhaling toxic substances, while genetic PAP affects almost exclusively children. PAP is suspected if investigation for ILD reveals a crazy-paving pattern on chest CT scan, and is confirmed by a milky looking BAL that gives a positive PAS reaction indicating extracellular proteinaceous material. PAP is now rarely confirmed by surgical lung biopsy. WLL is still the first-line treatment, with an inhaled GM-CSF as second-line treatment. Inhalation has been found to be better than subcutaneous injections. Other treatments, such as rituximab or plasmapheresis, seem to be less efficient or ineffective. The main complications of PAP are due to infections by standard pathogens (Streptococcus, Haemophilus and Enterobacteria) or opportunistic pathogens such as mycobacteria, Nocardia, Actinomyces, Aspergillus or Cryptococcus. The clinical course of PAP is unpredictable and spontaneous improvement can occur. The 5-year actuarial survival rate is 95%.
PAP 是一种极为罕见的疾病，其中表面活性剂成分会在肺泡中积聚，从而损害气体交换。PAP 有三种类型。最常见的形式是原发性 PAP，包括自身免疫性 PAP，其占所有 PAP 的 90%以上，由循环抗 GM-CSF 抗体的存在定义。继发性 PAP 主要由血液疾病、感染或吸入有毒物质引起，而遗传性 PAP 几乎仅影响儿童。如果ILD 的调查显示胸部 CT 扫描出现鹅卵石样图案，则怀疑 PAP，并通过乳白色 BAL 得到确认，该 BAL 呈 PAS 反应阳性，表明存在细胞外蛋白质物质。现在很少通过外科肺活检来确诊 PAP。WLL 仍然是一线治疗方法，GM-CSF 吸入剂为二线治疗方法。已经发现吸入治疗比皮下注射治疗更好。其他治疗方法，如利妥昔单抗或血浆置换，似乎效果较差或无效。PAP 的主要并发症是由标准病原体（链球菌、嗜血杆菌和肠杆菌）或机会性病原体（分枝杆菌、诺卡菌、放线菌、曲霉菌或隐球菌）引起的感染。PAP 的临床病程不可预测，可能会自发改善。5 年生存率为 95%。
