咖啡因治疗早产儿呼吸暂停相关基因多态性的研究进展

Recent research on gene polymorphisms related to caffeine therapy in preterm infants with apnea of prematurity

摘要:

早产儿呼吸暂停（apnea of prematurity，AOP）是早产儿的常见疾病之一，发病原因主要是呼吸控制中枢发育的不成熟。AOP如果得不到及时有效的处理会引发呼吸衰竭，引起脑缺氧损伤，严重者会导致死亡。咖啡因是治疗早产儿AOP的首选药物，但在早产儿中的治疗效果存在差异。随着对AOP研究的深入，越来越多的遗传学因素已被证实在AOP的发病和治疗中起重要作用，尤其是基因单核苷酸多态性对咖啡因疗效的影响已成为近年来研究的热点。该文就影响咖啡因疗效的相关基因多态性进行综述，以期为咖啡因的个体化治疗提供参考。

Abstract:

Apnea of prematurity (AOP) is one of the common diseases in preterm infants. The main cause of AOP is immature development of the respiratory control center. If AOP is not treated timely and effectively, it will lead to respiratory failure, hypoxic brain injury, and even death in severe cases. Caffeine is the first choice for the treatment of AOP, but its effectiveness varies in preterm infants. With the deepening of AOP research, more and more genetic factors have been confirmed to play important roles in the pathogenesis and treatment of AOP; in particular, the influence of single nucleotide polymorphism on the efficacy of caffeine has become a research hotspot in recent years. This article reviews the gene polymorphisms that affect the efficacy of caffeine, in order to provide a reference for individualized caffeine therapy. Citation: