中山地区新生儿先天性肾上腺皮质增生症的筛查结果分析

Analysis of Neonatal screening for congenital adrenal cortical hyperplasia in Zhongshan city

目的探讨中山地区先天性肾上腺皮质增生症(CAH)的发病率及治疗情况。方法 2008年8月到2010年9月间采集105320名出生48～72h后的新生儿足跟血3滴于滤纸血片上,采用时间分辨荧光免疫法检测血斑中17α羟孕酮(17-α-OHP)的浓度;可疑阳性的召回复查确诊;确诊为CAH的患儿给予规范治疗。结果筛查新生儿105320例,可疑患儿307例,确诊2例,均为男婴,发病率1/52660。结论中山地区CAH发病率低于全国平均水平,早期诊断与治疗对CAH患儿的愈后十分重要。

Objective： To investigate incidence and therapy of congenital adrenal cortical hyperplasia （CAH） in zhongshan city. Methods： 17 - α- Hydroxyprogesterone （17αOHP） screening for CAH was done from 2009 to 2010 in neonates of 48 -72 hours age. Three drops of blood were taken from heels of newborns to the Filter paper. The values of 17 - α - OHP were measured by time - resolved fluoroimmunoassay. Infants with elevated 17 - α - OHP level were recalled for definite diagnosis and standardized treatment. Results ： 105320 filter paper samples were tested, 307 Infants with CAH were questioned and 2 infants with CAH were confirmed. Incidence of CAH was 1/52660 in Zhongshan. Conclusions： The incidence of CAH in Zhongshan is lower than the average level of the whole country. Early diagnosis and treatment for the infants with CAH is very important.