Genetic defect types associated with interstitial lung disease / 中华实用儿科临床杂志

ABSTRACT

Interstitial lung disease (ILD),also known as the diffuse parenchymal lung diseases(DPLD),are a heterogeneous group of the chronic respiratory disorders with various causes.The etiology of the ILD in infants includes the surfactant dysfunction and immunodeficiency,which are mainly caused by single gene defects or mutations.The common surfactant dysfunction is caused by the mutation of surfactant protein B gene (SFTPB),surfactant protein C gene (SFTPC),adenosine triphosphate binding cassette transport A3 (ABCA3)gene and thyroid transcription factor 1 gene,can presented as the deadly neonatal respiratory distress syndrome(RDS),and the ILD in the children.Gene mutation of the granulocyte-macrophage colony stimulating factor receptor can lead to hereditary pulmonary alveolar proteinosis (PAP),and mucins 5 B gene,telomerase reverse transcriptase gene,telomerase RNA component gene were associated with adult pulmonary fibrosis.In recent years,it has been found that the mutation of some immune genes,such as STING,GATA2 and STAT5,which can lead to interstitial lung disease of children.With the development of gene technology,the more etiology of gene in the interstitial lung disease are diagnosed by the new technology.