Congenital surfactant dysfunction disorders.

doi:10.7504/ek2014120602

Abstract

Abstract:

Abstract： Congenital surfactant dysfunction disorders（SDD） or inborn errors of surfactant metabolism（IESM） include the mutations in the genes encoding the surfactant proteins B（SFTPB）， surfactant protein C （SFTPC）， the ATP-binding cassette transporter A3 （ABCA3）， the thyroid transcription factor 1（NKX2.1）， and the receptor for granulocyte-macrophage colony stimulating factor （GMCSFR）. These disorders have now been recognized as the important etiology for diffuse interstitial lung disease （ILD） in children. The age of onset and severity of these disorders are highly varied. The presentation ranges from fatal RDS in full-term infants to ILD in older infants， children， and even adults.

Key words: surfactant, interstitial lung disease, children

摘要：

先天性肺表面物质功能障碍疾病（surfactant dysfunction disorders）又称先天性肺表面物质代谢缺陷（Inborn errors 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。

关键词: 肺表面物质, 间质性肺疾病, 儿童

CLC Number:

Ｒ72

ZHENG Yue-jie.. Congenital surfactant dysfunction disorders.[J]. Acta Metallurgica Sinica, DOI: 10.7504/ek2014120602.

郑跃杰. 先天性肺表面物质功能障碍疾病[J]. 中国实用儿科杂志, DOI: 10.7504/ek2014120602.

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