浙江省1999-2004年新生儿先天性甲状腺功能低下症筛查分析

目的:分析浙江省5年中新生儿先天性甲状腺功能低下症(简称甲低)筛查情况与发病率,报告筛查后的治疗随访和疗效评估.方法: 采用时间分辨荧光免疫法检测滤纸血斑中TSH值;采用化学发光免疫分析法检测血清中TSH、 T3、T4水平;确诊患儿给以左旋甲状腺素钠(优甲乐)初始剂量4～6 μg.kg -1.d-1口服治疗,定期复查,根据TSH、T3、T4水平相应进行个体化的药物剂量调整,治疗随访2～3年后停药观察,结合甲状腺核素扫描或超声检查、智力测定、骨龄检测及体格检查,进行评估.结果:5年共筛查1 112 784人,平均筛查率63.5%,筛查出甲低可疑患儿6 750人,召回6 335人,召回率93.8%,确诊甲低764 人,甲低的发生率为每1 457例活产婴儿中有1例(1/1 457).764例中治疗随访1.5～2年以上患儿244例经甲状腺核素扫描或/和超声检查,其中:甲状腺先天缺如9例;异位11例(5例伴囊肿、发育不良);发育不良35例 (9例伴囊肿);正常189例.智商测定107例,发育商(DQ)评分＜85为2例、～90为9例、～100为28例、＞100为68例,平均106.9.骨龄检测122例,正常90例,稍落后32例.体格检查106例,身高与体重全部达到相应年龄标准(±2s).停药观察128例,其中终止治疗 54例 ,重新恢复治疗9例,余65例继续停药观察.治疗评估:原发性甲低 55例;暂性性甲低169 例;亚临床性甲低20例.结论:①浙江省先天性甲状腺功能低下症发病率明显高于全国其他省市水平,治疗随访后评估绝大部分为暂性性甲低.②采用优甲乐初始剂量 4～6 μg.kg-1.d-1口服治疗,既安全又有效.③早期干预及规范的治疗和随访 ,完全能保证患儿正常的体格发育和智能发育.

Screening for congenital hypothyroidism in neonates of Zhejiang Province during 1999-2004

Objective: To analyze the data of screening for congenital hypothyroidism (CH) newborns in Zhejiang Province during 1999-2004. Methods: The dried blood samples were collected on filter paper.The levels of thyroid-stimulating hormone (TSH) were measured by time-resolved fluoroimmunoassay,and the serum levels of TSH,triiodothyronine (T_3) and thyroxine (T_4) were detected by chemiluminescence.Infants with CH confirmed by neonatal screening were treated with levothyroxine (L-T_4) initiated with 46 g/kg.d~(-1) for 23 years.Growth,development and intelligence status,scintigraphy or ultrasonography of thyroid,and bone age were investigated to evaluate the efficacy of therapy during follow-ups. Results: A total of 1 112 784 neonates were screened for CH during 1999-2004 with a coverage rate of 63.5%.Of the 6 750 suspected CH cases,6 335 (93.8%) were recalled.764 cases of CH were confirmed with an average incidence rate of 1 case CH per 1 457 newborns (1/1 457). 244 of 764 patients were followed-up for more than 1.52 years.All of them received thyroid by scintigraphy or ultrasonography.Among them 189 cases were found with normal gland,35 with hypogenetic gland,11 with ectopic gland,and the remaining 9 didn't show any image of thyroid.The average score of development quotient (DQ) was 106.9.Among them,the DQ score was less than 85 in 2 cases,less than 90 in 9 cases,less than 100 in 28 cases,and in 68 cases the DQ was greater than 100.The bone age of 122 CH infants was evaluated with the X-ray radiography.In 90 cases of them,the bone age was normal,and 32 cases had progressed from development delay to normal.The height and weigh measured in all 106 cases had reached the related age criteria.The evaluation indicated that 55 cases were found with primary CH,169 with temporary CH and 20 with subclinical CH. Conclusion: Neonatal screening for CH and regular treatment for CH patients are important for attaining normal body development and intelligence development of patients.[