上海地区新生儿先天性肾上腺皮质增生症的筛查

Neonatal screening for congenital adrenal hyperplasia in Shanghai areas

目的 在上海地区新生儿疾病筛查项目中调查先天性肾上腺皮质增生症的发病率。方法 对来自市郊 5 0家妇婴保健医院、产科医院 5 0 60 0例出生 3d的新生儿足根刺血 ,滴于专用采血滤纸上 ,用酶免疫吸附试验方法测定干血滤纸片上 17 羟孕酮 ( 17 OHP)水平。结果 在 5 0 60 0例新生儿中发现 8例新生儿 17 OHP水平明显升高。经进一步检查 ,3例确诊为先天性肾上腺皮质增生症 2 1羟化酶缺乏 ,患者伴有血钾升高 ,血钠降低 ,睾酮水平增高。另外 5例为早产原因所致 17 OHP升高。结论 干血滤纸片法测定 17 羟孕酮适用于大规模开展先天性肾上腺皮质增生症筛查。本病在上海地区的发病率为 1∶16866。

Objective To investigate the incidence of congenital adrenal hyperplasia (CAH) in Shanghai areas by a neonatal screening program. Methods Heel prick blood samples were collected from 50 600 newborns in 50 maternal and child health care hospitals and maternity hospitals 72 hours after their birth and adsorbed onto standard filter paper for determining 17 hydroxyprogesterone (17 OHP) by enzyme linked immunosorbent assay (ELISA). Results Level of 17 OHP was significantly increased in eight cases of the 50 600 newborns, three cases of whom with established CAH with hyponatremia, hyperkalemia and hypertestosteronemia duo to 21 hydroxylase deficiency, and other five cases with high level 17 OHP due to preterm delivery.Conclusions Determining 17 OHP level on dried blood spotted filter paper is a reliable and practical approach for CAH mass screening in neonates. The incidence of CAH in Shanghai areas was 5.93 per 100 000 newborns (3/50 600).