先天性肺表面物质功能障碍疾病

发布时间：2019-08-13 07:53

【摘要】：先天性肺表面物质功能障碍疾病(surfactant dysfunc-tion disorders)又称先天性肺表面物质代谢缺陷(Inborn er-rors of surfactant metabolism,IESM),主要指SP-B基因(SFTPB)、SP-C基因(SFTPC)、ABCA3基因(ABCA3)、甲状腺转录因子-1基因(NKX2.1)和粒细胞-巨噬细胞集落刺激因子受体基因(GMCSFR)的突变或缺失导致的一类疾病。这类疾病目前被认为是儿童弥漫性间质性肺疾病的重要原因。其发病年龄和严重程度变化很大,从引起足月新生儿致死性呼吸窘迫综合征,到婴儿期、儿童期和成年人的弥漫性肺间质疾病,甚至到成年人出现肺纤维化。
[Abstract]:Congenital pulmonary surface substance dysfunction (surfactant dysfunc-tion disorders), also known as congenital pulmonary surface substance metabolic deficiency (Inborn er-rors of surfactant metabolism,IESM), mainly refers to a class of diseases caused by the mutation or deletion of SP-B gene (SFTPB), SP-C gene (SFTPC), ABCA3 gene (ABCA3), thyroid transcription factor-1 gene (NKX2.1) and granulocyte-macrophage colony-stimulating factor receptor gene (GMCSFR). This kind of disease is now considered to be an important cause of disseminated interstitial lung disease in children. The age and severity of onset vary greatly, from fatal respiratory distress syndrome in full-term neonates to disseminated pulmonary interstitial diseases in infancy, childhood and adults, and even pulmonary fibrosis in adults.
【作者单位】：深圳市儿童医院呼吸科;
【分类号】：R563.9

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