肺泡表面活性物质内稳态相关基因的异常与肺部疾病

Pulmonary surfactant homeostasis associated genetic abnormalities and lung diseases

肺泡表面活性物质（pulmonarysurfactant，PS）是由肺泡Ⅱ型上皮细胞合成和分泌的一类蛋白质和脂质的复合物，具有降低肺泡表面张力、保持肺泡内液体平衡、维持肺泡正常形态及防御功能。PS内稳态相关基因的遗传紊乱会造成PS缺乏或细胞毒性，引起新生儿、儿童及成年人的多种肺部疾病，包括新生儿呼吸窘迫综合征、间质性肺炎、蛋白沉积症和肺泡纤维化等，严重时会致死。本文简要综述了PS的功能及其内稳态相关基因遗传紊乱与肺部疾病的关系。

Pulmonary surfactant （PS） is synthesized and secreted by alveolar epithelial type II （AE Ⅱ ） cells, which is a complex compound formed by proteins and lipids. Surfactant participates in a range of physiological processes such as reducing the surface tension, keeping the balance of alveolar fluid, maintaining normal alveolar morphology and conducting host defense. Genetic disorders of the surfactant homeostasis genes may result in lack of surfactant or cytotoxicity, and lead to multiple lung diseases in neonates, children and adults, including neonatal respiratory distress syndrome, interstitial pneumonia, pulmonary alveolar proteinosis, and pulmonary fibrosis. This paper has provided a review for the functions and processes of pulmonary surfactant metabolism, as well as the connection between disorders of surfactant homeostasis genes and lung diseases.