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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 and analyze the screening results of neonatal congenital hypothyroidism (CH) in Nanjing from January 1998 to December 2009. Methods Blood samples of 442 454 newborn infants born at 72 h were collected on filter paper, TSH was detected by time-resolved immunosorbent assay, and those with positive TSH were recalled to further test TSH, triiodothyronine (T3), tetrathionine (T4), free T3 (FT3), free T4 (FT4) to confirm the diagnosis. The diagnosed person immediately started to replace the treatment with levothyroxine tablets (4.3 ~ 12.0μg.kg-1.d-1), and regularly monitored its thyroid function, measured its height and body mass, of which 68 cases were given intelligence tests to evaluate Efficacy. Results A total of 442 454 patients were screened during the 12 months. A total of 183 CH patients were diagnosed with a prevalence of 0.41 ‰, and 117 patients were followed up. The median initial treatment time was 18 days (ranged from 7 to 67 days) and the initial dose of levothyroxine was 7.35 μg.kg-1.d-1. CH children with height, body mass results basically reached the normal reference standard. The Gessel Infant Development Scale (GESELL) test results showed that 1 case of intelligence development lag, 8 cases of intelligent retardation. T4, FT4 pretreatment levels and children with GESELL test scores, adaptability and fine exercise were positively correlated (Pa <0.05). Conclusion CH patients diagnosed by screening should be hormone replacement therapy as early as possible, which can effectively improve their prognosis. Therefore, neonatal screening and follow-up treatment worth promoting and improving.