怀化市新生儿先天性甲低的筛查与治疗评估

Evaluation on the Screening and Therapy of Congenital Hypothyroidism in Neonates in Huaihua

目的探讨先天性甲状腺功能减低症的筛查、治疗方法、随访以及疗效评价。方法筛查采用时间分辨荧光免疫法进行TSH水平检测,对召回的可疑患儿采用全自动化学发光分析仪检测甲状腺功能,确诊后给予左旋甲状腺素钠4~10μg/kg.d治疗,治疗2~3年后,停药观察,结合甲状腺B超、体格发育评价、骨龄评定和智力检测进行综合评估。结果筛查了活产新生儿153 951人,检出甲低60例,发病率0.39‰。54例坚持治疗的患儿体格发育正常,智力发育与正常对照组比较差异无统计学意义,48人做了甲状腺B超,其中1例甲状腺缺如,4例甲状腺小,29人甲状腺肿大或稍大,14人甲状腺正常。27人进行了疗效评估,14例为暂时性甲低,11人为原发性甲低,2人为亚临床甲低。结论开展新生儿疾病筛查,结合早期安全有效的治疗和长期随访,可避免先天性甲低智残的发生,保障儿童体格和智能发育正常。

Objective To explore the screening,therapy and follow-up of congenital hypothyroidism（CH）,and to evaluate the efficacy. Methods The neonates were screened for CH by detecting the serum thyroid stimulating hormone（TSH） with time-resolved fluorescence immunoassay.The suspected cases were recalled for thyroid function examination by an automated immunoassay analyzer.Cases with confirmed diagnosis of CH were treated with levothyroxine sodium,4-10 μg/kg·d for 2-3 years.The efficacy of the treatment was evaluated by thyroid ultrasound examination,growth and development assessment,bone age assessment and intelligence test. Results A total of 153,951 neonates were screened and 60 cases were diagnosed as CH,with an incidence of 0.39‰.54 cases with persistent treatment had normal physical development,and their intelligence development was not statistically different from that of the controls（P0.05）.Thyroid ultrasound examination of 48 cases found 1 case without thyroid,4 with small thyroids,29 with enlarged thyroids,and 14 with normal thyroids.Curative effect evaluation in 27 cases revealed 14 with temporary CH,11 with primary CH and 2 with subclinical CH. Conclusions Neonatal screening combined with early,safe and effective treatment and long-term follow-up can prevent the occurrence of intellectual disability caused by congenital hypothyroidism and ensure the normal physical and intelligent development of the patients.