摘要
目的通过对成都市1992～2010年新生儿先天性甲状腺功能减退症(congenital hypothyroidism,CH)和苯丙酮尿症(Phenylketonuria,PKU)的筛查结果分析,了解成都市CH和PKU的发病情况,为进一步规范和提高成都市新生儿疾病筛查的管理水平及完善有效的干预措施提供依据。方法采集出生72h后、正常哺乳的新生儿足跟血于特定滤纸上进行CH及PKU筛查。PKU筛查检测指标为血苯丙氨酸(Phe)浓度,采用荧光分析法、定量酶法、细菌抑制法测定;CH筛查检测指标为血促甲状腺激素水平,采用时间分辨免疫荧光分析法(Tr-FIA)、酶免疫荧光分析法(FEIA)和酶联免疫吸附法(ELISA)三种实验方法。结果 1992～2010年,成都市共筛查新生儿933828名,筛查率由1992年的2.58%提高到2010年的91.69%,可疑CH患儿复诊率由1992年的23.70%提高到2010年的94.46%,可疑PKU患儿复诊率由1992年的38.24%提高到2010年的89.68%,共确诊CH 400例,发病率1/2335;PKU 36例,发病率3.6/10万。结论①成都市CH发病率为1/2335,与全国平均水平相当;PKU发病率为3.6/10万,低于全国平均水平。②对新生儿疾病筛查认识水平的提高和管理的规范是推动本项工作开展,进一步有效降低残疾儿发生的重要环节。
Objective To present the results of the Chengdu neonatal screening condition of congenital hypothyroidism （CH） and Fhenylketonuria（PKU） from 1992 to 2010 with a view to further improve the quality in the management of neonatal screening. Methods Blood samples were taken from the heels of the 3-day old neonates of CH and PKU screening. Phenylalanine were detected by fluorimetric method and aeterial inhibition assay to screen for PKU. CH was screened by TSH measurement by time-resolved fluorescence immunoassay （Tr-FIA） , FEIA and ELISA . Results From year 1992 to 2010, a total of 933,828 neo- nates were screened. The screening coverage increased from 2.58% in 1992 to 97.24% in 2010 for all newborns. The referral rate of newborns suspected with CH increased from 23.7% in 1992 to 83.29% in 2010 and with PKU increased from 38.24% in 1992 to 86. 98% in 2010. There were 400 positive CH cases , and the incidence was I out of 2335. Thirty-four cases were confirmed with PKU and the incidence was 3.6 out of 100000. Conclusion （1）The prevalence rate of CH in Chengdu is 1 out of 2335, e- qually as the other areas in China. For PKU that is 3.6 out of 100000, lower than the other areas in China. （2）To better under- stand the importance of neonatal screening and to streamline the screening process will help reduce the prevalence of mental retar- dation.
出处
《四川医学》
CAS
2012年第8期1474-1477,共4页
Sichuan Medical Journal
