尿素循环障碍的药物治疗  

Drug treatment for urea cycle disorders

作　　者：李敏[1] 陈哲晖 周颖[1] 李若茗 杨艳玲[2] 崔一民[1,3,4] LI Min;CHEN Zhe-hui;ZHOU Ying(Department of Pharmacy,Peking University First Hospital,Beijing 100034,China;不详)

机构地区：[1]北京大学第一医院药学部,北京100034 [2]北京大学第一医院儿科,北京100034 [3]北京大学药学院药事管理与临床药学系,北京100191 [4]北京大学临床药理研究所,北京100191

出　　处：《中国实用儿科杂志》2021年第10期764-768,共5页Chinese Journal of Practical Pediatrics

基　　金：国家科技重大专项[2018ZX09721003-008,2017ZX09304029-006-001]。

摘　　要：先天性尿素循环障碍是一类严重的遗传代谢病,由于尿素循环中的酶缺陷所致,发病率低,致残率及致死率高。由于病因及个体生活状态不同,患者临床表现各异,半数患者发生高氨血症,造成急性或慢性脑损伤及肝损害,需要个体化饮食、药物治疗及肝移植治疗。尿素循环障碍的主要治疗原则是减少体内氨生成,促进氨排泄,降低血氨,尽可能防治高氨血症。氮清除剂作为尿素循环障碍治疗的核心药物,通过与甘氨酸或谷氨酰胺结合,消耗体内多余的氨。文章对氮清除剂等降氨药物的药理作用、药代动力学特征及临床应用等方面进行阐述,以期为临床合理用药提供参考。Congenital urea cycle disorders are severe inherited metabolic diseases caused by the enzyme deficiency with low morbidity and high mortality.Due to different pathogenic causes and personal conditions,the patients present with different clinical manifestations.About half of the patients with urea cycle disorders have hyperammonemia,which results in acute or chronic brain and liver damage.Individualized diet,ammonia lowering drugs or liver transplantation should be considered for the treatment.The main treatment principle of urea cycle disorders is to lower blood ammonia by reducing ammonia generation and promoting ammonia excretion.As the core drugs of urea cycle disorders,nitrogen scavengers consume the excess ammonia in the body by combining with glycine or glutacrylamide.The pharmacological action,pharmacokinetic characteristics and clinical study of nitrogen scavenger and other ammonia lowering drugs were reviewed in this paper in order to provide reference for rational clinical use of nitrogen scavenger.

关 键 词：氮清除剂 尿素循环障碍 高氨血症 苯甲酸钠 苯丁酸钠 

分 类 号：R72[医药卫生—儿科]