摘要肺间质疾病(interstitial lung disease，ILD)是一类在临床(氧合障碍)-影像(弥漫性病变)-病理(炎症和纤维化)上具有共同特征，而病因不同的异质性疾病的总称。儿童ILD的病因谱与成人存在明显差别，其中基因缺陷占有重要地位。常见的是肺表面活性物质代谢方面的基因缺陷，近年来，还发现肺发育、免疫/自身炎症、代谢方面的基因缺陷也可导致儿童ILD。随着基因检测技术的发展，越来越多的病因会被发现。

abstractsInterstitial lung disease(ILD)is a group of heterogeneous diseases with common features in clinic(oxygenation disorder)-imaging(diffuse lesion signs)-pathology(inflammation and fibrosis), but different etiology.The etiological spectrum of ILD in children is significantly different from that in adults, among which genetic defect play an important role.The common genetic defect is associated with pulmonary surfactant metabolism, in recent years, it has been found that the genetic defect of some lung development, immune/autoinflammation, metabolism also can lead to ILD in children.With the development of gene technology, more and more etiology will be found.