肺泡蛋白沉积症研究进展

Progress on pulmonary alveolar proteinosis

肺泡蛋白沉积症（PAP）是一种肺部少见病，以肺泡腔和细支气管腔沉积PAS染色阳性的不可溶性富磷脂蛋白质物质为特征。可分为因表面活性蛋白或GM-CSF受体基因突变导致的先天性PAP、因GM-CSF抗体阻断了肺泡巨噬细胞的激活导致的自身免疫性PAP和继发于血液系统疾病或吸入有毒气体导致的继发性PAP。临床表现主要为进行性气促、低氧血症，胸部高分辨率CT主要表现为毛玻璃样高密度影和“疯狂堆砌”改变，支气管肺泡灌洗液PAS染色阳性可确诊。肺泡灌洗治疗有效，GM-CSF替代疗法和针对GM—CSF抗体的治疗是正在研究的治疗方法。

Pulmonary alveolar proteinosis （PAP） is a rare pulmonary disease characterised by alveolar accumulation of PAS positive surfactant. PAP can be divided into the genetic PAP which results from mutations in surfactant proteins or GM-CSF receptor genes, the PAP secondary to toxic inhalation or haematological disorders, and the auto-immune PAP with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Dyspnoea and hypoxemia are the most common presenting symptoms. High- resolution computed tomography shows ground-glass opacities and a characteristic ＂crazy paving＂ pattern. The PAS positive bronchoalveolar lavage findings establish the diagnosis. Whole lung lavage is effective. The recombinant GM-CSF therapy and therapies targeting anti-GM-CSF antibodies （rituximab and plasmapheresis） are being investigated.