Abstract: In recent years， due to deeper and deeper understanding of the pathogenesis of pulmonary alveolar proteinosis， its classification has become more and more detailed， but the clinical manifestations， diagnosis， treatment and prognosis of different types of pulmonary alveolar proteinosis （PAP）are significantly different. Congenital PAP is caused by impaired pulmonary surfactant production， which is a group of diseases caused by mutations in genes encoding pulmonary surfactant or proteins involved in pulmonary surfactant production and lung development， accounting for approximately 2% of PAP. The genes involved include SFTPB， SFTPC， ABCA3， and NKX2-1. This article summ-arizes the pathogenesis， clinical manifestations， diagnostic methods， treatment strategies and prognosis of congenital PAP.

Key words: congenital pulmonary alveolar proteinosis, clinical manifestations, diagnosis, therapy, prognosis

摘要： 近年来，由于对肺泡蛋白沉积症发病机制认识的逐渐加深，其分类也越来越细致，而不同类型肺泡蛋白沉积症的临床表现、诊断、治疗、预后明显不同。先天性肺泡蛋白沉积症指肺表面活性物质产生障碍所导致，是由编码肺表面活性物质或参与肺表面活性物质产生的蛋白或肺发育蛋白的基因突变引起的一组疾病，约占肺泡蛋白沉积症的2%，所涉及的基因包括SFTPB、SFTPC、ABCA3和NKX2-1。该文主要介绍了先天性肺泡蛋白沉积症的发病机制、临床表现、诊断、治疗及预后。

关键词: 先天性肺泡蛋白沉积症, 临床表现, 诊断, 治疗, 预后