先天性甲状腺功能减低症筛查及治疗效果分析

目的了解先天性甲状腺功能减低症(CH)的筛查及替代治疗结果。方法回顾性分析2003年7月—2015年7月采用时间分辨荧光免疫法测定新生儿促甲状腺激素(TSH)水平筛查CH的资料;阳性召回的可疑患儿采用化学免疫发光法测定血清甲状腺功能,确诊者予左旋甲状腺素钠替代治疗并定期随访。结果 12年来共筛查新生儿1 228 289例,确诊950例,CH发病率1/1 293。接受正规治疗、随访满2年及以上的635例CH患儿中,488例(76.85%)为永久性CH,147例(23.15%)为暂时性CH。CH患儿随访至1岁和3岁时,体格生长和发育商(DQ)无异常。结论新生儿筛查可早期诊断CH,早期实施替代治疗。

Analysis of screening and therapeutic effect of congenital hypothyroidism

Objective To explore neonatal screening and therapeutic effects of congenital hypothyroidism (CH) in Xuzhou. Methods Data of neonatal heel blood thyroid stimulating hormone (TSH) tested with time-resolved lfuoroimmunoassay from July 2003 to July 2015 were retrospectively analyzed; The cases with positive screening tests were called back for further examination of the serum thyroid function (TSH,FT 3,FT 4 ) by chemiluminescence immunoassay method. The CH patients were given levothyroxine replacement. A total of 686 patients with CH treated routinely for 1 years later (CH group) and 650 matched healthy children (control group) were included in the study. The physical development was monitored regularly. The neurodevelopment was tested at 1 and 3 years old. Results In Xuzhou 1228289 neonates were screened during 12 years,of them 950 cases were diagnosed with CH and the incidence was 1/1293 . Among 635 CH patients who received treatment and follow-up regularly for 2 years,?488 cases ( 76 . 85%) were evaluated to have permanent hypothyroidism and 147 cases ( 23 . 15%) have transient hypothyroidism. There were no signiifcant differences in developmental quotient between the CH group and the control group at 1 and 3 years old (P?>?0 . 05 ). Conclusions Neonatal disease screening is an effective measure for early diagnosis of CH; the physical and mental development are normal in CH patients after early replacement therapy.