Advances in physiology and biochemistry have provided fundamental insights into the role of pulmonary surfactant in the pathogenesis and treatment of preterm infants with respiratory distress syndrome. Identification of the surfactant proteins, lipid transporters, and transcriptional networks regulating their expression has provided the tools and insights needed to discern the molecular and cellular processes regulating the production and function of pulmonary surfactant prior to and after birth. Mutations in genes regulating surfactant homeostasis have been associated with severe lung disease in neonates and older infants. Biophysical and transgenic mouse models have provided insight into the mechanisms underlying surfactant protein and alveolar homeostasis. These studies have provided the framework for understanding the structure and function of pulmonary surfactant, which has informed understanding of the pathogenesis of diverse pulmonary disorders previously considered idiopathic. This review considers the pulmonary surfactant system and the genetic causes of acute and chronic lung disease caused by disruption of alveolar homeostasis.

中文翻译：

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肺表面活性剂稳态的疾病。

生理和生物化学方面的进展为了解肺表面活性剂在早产儿呼吸窘迫综合征的发病机理和治疗中的作用提供了基本见识。表面活性剂蛋白，脂质转运蛋白和调节其表达的转录网络的鉴定提供了识别出生前和出生后调节肺表面活性剂生产和功能的分子和细胞过程所需的工具和见识。调节表面活性剂稳态的基因突变与新生儿和大婴儿的严重肺部疾病有关。生物物理和转基因小鼠模型提供了对表面活性剂蛋白和肺泡稳态的潜在机制的深入了解。这些研究为理解肺表面活性剂的结构和功能提供了框架，为了解先前被认为是特发性的多种肺部疾病的发病机理提供了信息。这篇综述考虑了肺泡表面活性剂系统以及由肺泡稳态引起的急性和慢性肺部疾病的遗传原因。