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。
Congenital surfactant dysfunction disorders(SDD)or inborn errors of surfactant metabolism(IESM)include themutations in the genes encoding the surfactant proteins B(SFTPB),surfactant protein C(SFTPC),the ATP-bindingcassette transporter A3(ABCA3),the thyroid transcriptionfactor 1(NKX2.1),and the receptor for granulocyte-macro-phage colony stimulating factor(GMCSFR). These disordershave now been recognized as the important etiology for diffuseinterstitial lung disease(ILD)in children. The age of onsetand severity of these disorders are highly varied. The presentation ranges from fatal RDS in full-term infants to ILD in olderinfants,children,and even adults.
出处
《中国实用儿科杂志》
CSCD
北大核心
2014年第12期883-885,共3页
Chinese Journal of Practical Pediatrics
关键词
肺表面物质
间质性肺疾病
儿童
surfactant
interstitial lung disease
children