中国实用儿科杂志

中国实用儿科杂志

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先天性肾上腺皮质增生症新生儿筛查

  

  1. 上海交通大学医学院附属新华医院儿内科，上海  200025
  • 出版日期:2016-06-06 发布日期:2016-06-12

Newborn screening for congenital adrenal hyperplasia

  1. Department of Pediatric Internal Medicine，Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine，Shanghai  200025，China
  • Online:2016-06-06 Published:2016-06-12

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。

关键词: 先天性肾上腺皮质增生症, 21-羟化酶缺乏, 新生儿筛查, 17-羟孕酮

Abstract:

Congenital adrenal hyperplasia（CAH）is mainly caused by 21-hydroxylase deficiency（21-OHD）. Nationwide neonatal screening for CAH caused by 21-OHD in China is based on measurement of 17-hydroxyprogesterone （17-OHP） levels from heel-stick blood samples on filter paper. The situation and methods of neonatal screening，confirmed diagnosis and therapeutic rule for CAH in China and other countries are described for the standardization of screening.

Key words: congenital adrenal hyperplasia, 21-hydroxylase deficiency, neonatal screening, 17-hydroxyprogesterone