Genetic defect associated with interstitial lung disease in children / 国际儿科学杂志

ABSTRACT

Interstitial 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.