摘要
先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)最常见原因是21-羟化酶缺乏(21-hydroxylase deficiency,21-OHD)。新生儿CAH筛查是指通过测定干滤纸血片中17-羟孕酮浓度,进行21-OHD的筛查。总结新生儿CAH筛查国内外现状、筛查方法、确诊方法及治疗原则,可为相关实验人员及临床医生筛查的规范化提供帮助。
Congenital adrenal hyperplasia （CAH）is mainly caused by 21-hydroxylase deficiency （21-OHD）. Nationwide neonatal screening for CAH caused by 21-OHD in China isbased on measurement of 17-hydroxyprogesterone （17-OHP） levels from heel-stick blood samples on filter paper. The situa- tion and methods of neonatal screening, confirmed diagnosis and therapeutic rule for CAH in China and other countries are described for the standardization of screening.
出处
《中国实用儿科杂志》
CSCD
北大核心
2016年第6期422-425,共4页
Chinese Journal of Practical Pediatrics
