Genetic defect types associated with interstitial lung disease
10.3760/cma.j.issn.2095-428X.2018.04.007
- VernacularTitle:与间质性肺疾病发病相关的基因缺陷类型
- Author:
Xiuyun LIU
1
Author Information
1. 100045 国家儿童医学中心,首都医科大学附属北京儿童医院呼吸科,国家呼吸系统疾病临床医学研究中心
- Keywords:
Lung disease,interstitial;
Gene;
Surfactant
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(4):267-272
- CountryChina
- Language:Chinese
-
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.
