常州地区2001—2010年新生儿先天性肾上腺皮质增生症筛查结果分析  

Congenital Adrenal Hyperplasia in Changzhou City:A 10-year Screening

作　　者：袁佩[1] 许国锋[1] 王秋伟[1] 王淮燕[1] 蒋健[1] 周蓓蓓[1] 江丽华[1] 虞斌[1] 

机构地区：[1]南京医科大学附属常州妇幼保健院、江苏省新生儿疾病筛查常州分中心,江苏省常州市213003

出　　处：《中国全科医学》2012年第36期4249-4251,共3页Chinese General Practice

摘　　要：目的总结常州地区2001—2010年新生儿先天性肾上腺皮质增生症(CAH)筛查结果。方法采用时间分辨荧光免疫法对常州地区2001—2010年175 876例活产新生儿进行CAH筛查,对2次17羟基孕酮(17-OHP)>30.0 nmol/L者及时召回并进一步确诊。对所有确诊患儿建立治疗随访档案。结果 10年间共筛查175 876例新生儿,确诊CAH患儿13例,检出率为1/13 529。常州地区新生儿CAH筛查工作已覆盖2市5区。2008、2009、2010年,CAH误诊率分别为0.62%(177/28 764)、0.57%(209/36 508)和0.67%(251/37 693);且3年中不同季节的CAH误诊率比较,差异无统计学意义(KW=7.308,P>0.05)。10年中仅出现1例漏诊结果,其余患儿足跟血17-OHP水平58.3～732.0 nmol/L。除4例召回时已死亡未得以确诊外,其他患儿均在专家治疗组的精心治疗下生长发育良好。结论常州地区10年来CAH筛查稳步发展,对CAH患儿及时诊治具有积极作用。但尚需进一步积累数据,为今后科学开展筛查工作、规范临床诊治奠定基础。Objective To summarize the data of screening of congenital adrenal hyperplasia （CAH） for 10 years in Changzhou city. Methods Time - resolved fluorescence immunoassay were used to screen CAH in 175 876 live births and those who had 17 hydroxyprogesterone （ 17 - OHP） 〉 30. 0 nmol/L were recalled to make a final diagnosis. Treatment follow - up files were established for positive patients. Results A total of 175 876 newborns had been screened for 10 years. Thirteen were diagnosed as CAH with a rate of 1/13 529. In years 2008, 2009, 2010, CAH misdiagnosis rates were 0. 62% （177/28 764）, 0. 57% （209/36 508）, 0. 67% （251/37 693）, respectively, and no significant difference was noted between different sea- sons of 3 years （KW =7. 308, P 〉0. 05）. Only 1 missed - diagnosis case was found, and heel blood 17 - OHP values of the others were 58.3 - 732. 0 nmol/L. Conclusion CAH screening plays an active role in CAH diagnosis and treatment.

关 键 词：新生儿筛查 先天性肾上腺皮质增生症 常州 

分 类 号：R725.86[医药卫生—儿科]