新生儿持续性肺动脉高压相关基因的研究进展

Progress of genes related to persistent pulmonary hypertension of the newborn

新生儿持续性肺动脉高压(persistent pulmonary hypertension of the newborn,PPHN)是由一种或多种因素导致的严重危及新生儿生命的疾病,是新生儿时期的危重症。病因主要包括呼吸窘迫综合征、胎粪吸入综合征、感染、先天性膈疝等。PPHN的发病机制仍不完全明确,神经生化、内环境、遗传等因素是目前较为公认的影响因素。近年来随着基因检测技术的迅速发展和广泛应用,越来越多的研究表明,PPHN的发生可能与一些基因的多态性和(或)突变有关。该文对可能与PPHN相关的6个基因位点的研究进展进行综述,以期为临床研究提供参考。

Persistent pulmonary hypertension of the newborn(PPHN)is a disease that seriously endangers the life of the newborn caused by one or more factors.The causes mainly include respiratory distress syndrome,meconium aspiration syndrome,infection,congenital diaphragmatic hernia,etc.The pathogenesis of PPHN is still not completely clear,and neurobiochemical,internal environment,genetics and other factors are currently recognized as influencing factors.In recent years,with the rapid development and wide application of genetic testing technology,more and more studies have shown that the occurrence of PPHN may be related to the polymorphism and/or mutation of some genes.This article reviews the research progress of six gene loci that may be related to PPHN in order to provide reference for clinical research.