重视母源性苯丙酮尿症的防治  

Paying more attention to the prevention and treatment of maternal phenylketonuria

作　　者：沈明[1] ShenMing(Department of Pediatrics, China - Japan Friendship Hospital, Beijing 100029, China)

机构地区：[1]中日友好医院儿科,北京100029

出　　处：《中华实用儿科临床杂志》2016年第20期1521-1524,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：中日友好医院院级课题（2010-MS-11,2013-MS-25）;志谢感谢北京大学第一医院儿科杨艳玲教授、中日友好医院临床医学研究所赵世萍研究员对本工作的指导

摘　　要：我国自1981年起，逐步开展了高苯丙氨酸血症（HPA）的新生儿筛查，许多苯丙酮尿症（PKU）患儿生长发育良好，一些患儿已步入婚育阶段。女性患者孕期血苯丙氨酸（Phe）浓度持续增高，可导致胎儿脑发育障碍及各种畸形发生，即母源性PKU综合征。现从母源性PKU的发生机制、预防、四氢生物蝶呤的支持治疗及成年女性PKU患者的综合管理等各个方面，综述国际上的最新进展，以期对于女性PKU患者顺利度过孕产期，保证胎儿的健康成长，防止母源性PKU的发生提供一些借鉴。Since 1981, neonatal screening of hyperphenylalaninemia（HPA） has been carrying on in China. The newborns with phenylketonuria （PKU） have been good growthing and developing. Some of them already take part in the marriage period. The fetal brain developmental disorders and various teratogenesis could be leaded if the pregnant women with PKU have high blood concentration of phenylalaninine, namely, maternal PKU syndrome would happen, Now, the international latest progress, including mechanism, prevention, tetrahydrobiopterin support treatment of mater- nal PKU and the comprehensive management for adult female patients with PKU were summarized, and would like to provide some references for preventing the occurrence of maternal PKU syndrome.

关 键 词：母源性苯丙酮尿症 高苯丙氨酸血症 四氢生物蝶呤缺乏症 沙丙蝶呤 

分 类 号：R725.8[医药卫生—儿科]