新生儿先天性甲状腺功能低下症筛查及治疗

目的了解保定市近几年新生儿先天性甲状腺功能低下症（congenital hypothyroidism，CH）的发病率，并对确诊患儿的治疗情况进行分析。方法以2005年1月～2008年7月间保定市区及部分县、乡出生的新生儿为对象，出生3天后，采集足跟血滴于S＆903S型号滤纸上，采用时间分辨荧光免疫法（DELFIA），通过测定滤纸干血片中的促甲状腺素（thyroid—stimulating hormone，TSH）的含量进行先天性甲低筛查；电化学发光法测定血清中FT3、FT4、T3 T4和鸭H的含量进行确诊；口服左旋甲状腺素片（L—T4）给予治疗。初始剂量为8—10ug／kg·d，顿服，维持剂量以无用药过量临床症状且FT4在正常范围之上限为剂量标准，定期随访，进行体格、智能发育、骨龄生长发育情况及血清FT3、FT4、T3 T4和TSH含量的测定。结果2005年1月～2008年7月共筛查146219人，确诊先天性甲低44人，其中暂时性甲低2人，发病率为0．30‰（1／3333）。确诊患儿（赊3人到外院进行治疗，1人治疗过程中拒绝随访外）治疗1个月后，血清FT4恢复正常36人，50天内恢复正常4人，体格和智能发育均在正常范围内，骨龄发育基本正常。结论新生儿筛查是早发现先天性甲低的重要手段，而且早诊断，早治疗是预防患儿体格及智能严重受损的关键。

Neonatal screening for congenital hypothyroidism and treatment in Baoding city

Objective： To explore the incidence of newborns with congenital hypothyroidism, CH in Baoding city in recent years and analyse treatment. Methods： Heel blood sample were dropped on s＆903S type filter paper from neonate older than 3 days after birth in local hospital and sent to the center of Baoding city neonatal disease screaning in 7 - 10 days. TSH levels on dried blood sam- ples were measured by Time- resolved fluoroimmunoassay. （victor^1420 device made by Wallac company in Finland）. FT3, FT4, T3 T4 and TSH levels in serum were tested by chemiluminesence. Infants with CH were treated with levothyroxine （ L - T4）. Initial dosage was 8 - 10ug/kg · d one times a day, criterion of normal dosage was that FT4 was at upper limit. Infants were followed - up and tested physical, mental development and bone age regularly. Results： From January 2005 to July 2008, total 146219 newborns were screened and 44 cases were diagnosed as CH, including 2 cases temporary CH, the incidence of CH was 1 in 3333. One month after infants with CH were treated, FT4 levels in serum of 36 cases reduce to normal level and 4 cases in 50 days, growth and development of physical, mental and bone age were nearly normal. Conclusion ： Neonatal screening was an important mean that could detect neonate with CH in early time, also timely diagnosis and treatment were playing a critical role on preventing neonatal physical and mental from heavely harm.