与间质性肺疾病发病相关的基因缺陷类型

Genetic defect types associated with interstitial lung disease

间质性肺疾病（ILD）也被称为弥漫性实质性肺疾病（DPLD），是由多种病因引起的一组异质性慢性肺疾病。婴幼儿ILD病因包括表面活性物质功能障碍、免疫缺陷，这些原因多为单基因缺陷或突变所致。常见的表面活性物质功能障碍包括表面活性蛋白B基因（SFTPB）、表面活性蛋白C基因（SFTPC）、三磷酸腺苷结合盒转运子A3（ABCA3）和甲状腺转录因子1的基因突变，可以表现为新生儿致死性呼吸窘迫综合征（RDS），也可以表现为儿童期的ILD。粒细胞－巨噬细胞集落刺激因子受体基因的突变可引起遗传性肺泡蛋白沉积症（PAP），还有黏蛋白5B基因、端粒酶反转录酶基因、端粒酶RNA基因等与成人肺纤维化有关。近年还发现一些免疫基因的突变，如干扰素刺激因子基因（STING）、GATA2、STAT5均可导致儿童ILD。随着基因技术的发展，将有更多的ILD得到病因诊断。

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 5B 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 techno-logy, the more etiology of gene in the interstitial lung disease are diagnosed by the new technology.