摘要
目的总结并分析1998年1月-2009年12月南京地区新生儿先天性甲状腺功能减低症(CH)的筛查结果。方法采集出生72 h新生儿442 454例的足跟血滴于滤纸上,采用时间分辨免疫法测定滤纸血斑促甲状腺激素(TSH),阳性者召回进一步测定静脉血TSH、三碘甲状腺原氨酸(T3)、四碘甲状腺原氨酸(T4)、游离T3(FT3)、游离T4(FT4)以明确诊断。确诊者立即开始予左旋甲状腺素片(4.3～12.0μg.kg-1.d-1)替代治疗,定期监测其甲状腺功能,测量其身高、体质量,其中68例患儿予智力测试,以评估疗效。结果 12 a共筛查442 454人,确诊CH 183例,发病率为0.41‰,对117例进行随访。初始治疗时间的中位数为18 d(7～67 d),初始左旋甲状腺素的平均剂量为7.35μg.kg-1.d-1。CH患儿的身高、体质量结果基本达到正常参照标准。盖泽尔婴幼儿发展量表(GESELL)测试结果显示1例智能发育落后,8例智能发育迟缓。T4、FT4的治疗前水平与患儿的GESELL测试总分、适应性及精细运动均呈正相关(Pa<0.05)。结论经筛查确诊的CH患儿,应尽可能早地进行激素替代治疗,可有效改善其预后。因此新生儿筛查及随访治疗工作值得推广和完善。
Objective To summarize neonatal congenital hypothyroidism（CH） screening results in Nanjing district from Jan.1998 to Dec.2009. Methods The neonatal CH screening procedure was based on determination of thyroid stimulating hormone（TSH） in dried blood spots obtained by heel puncture 3 d after birth.To confirm diagnosis,those suspicious cases of TSH,triiodothyronine（T3）,free T3（FT3） and thyroxine（T4）,free T4（FT4） in serum levels were detected.Infants with CH were treated with levothyroxine（L-T4） initiated with 4.3-12.0 μg·kg-1·d-1.Their thyroid function,weight,height and intelligence status（by Gesell Developmental Schedules） were investigated to evaluate the efficacy of therapy during follow-up. Results A total of 442 454 neonates were screened for CH during 1998-2009.One hundred and eighty-three cases of CH were confirmed with an average incidence rate of 0.41‰.One hundred and seventeen patients were followed up.The median incipient time of treatment was 18 d（7-67 d）.The CH children attained normal physical and intelligence levels of the Gesell tests showed 1 case had mental deficiency,and 8 cases had mental retardation.The T4,FT4 levels before treament were positively correlated with the full scale intelligence quotient（IQ）,adaptation IQ and fine motor skill IQ（Pa0.05）. Conclusions Infants with CH confirmed by neonatal screening have chance of the earliest possible time and may achieve satisfactory prognosis.Therefore,newborn screening and follow-up study are worth of improving and popularizing.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2011年第20期1567-1569,1572,共4页
Journal of Applied Clinical Pediatrics
