天津市区266401例新生儿先天性甲状腺功能减退筛查

A neonatal screening of congenital hypothyroidism covered 266401 cases in Tianj in area

目的 观察天津市区新生儿先天性甲状腺功能减退症 (简称甲低 )的发病率、治疗效果及长期预后。方法 共筛查新生儿 2 6640 1例。T4 及促甲状腺激素 (TSH )测定初期采用自行研制的滤纸干血T4 、TSH放射免疫分析法 (RIA) ,近期改用时间分辨荧光免疫分析滤纸干血TSH和T4 RIA试剂盒。静脉注射99TcmO-411 1～ 18 5MBq ,3 0min后行甲状腺SPECT显像。结果 2 6640 1例新生儿中 ,发现永久性甲低 3 6例 ,阳性率 0 0 14 %。在天津医科大学总医院坚持治疗 2 2例 ,2 0 0 0年 7月随访19例患儿 ,其中 18例 (94 7% )发育正常 ,营养中等以上。 19例患儿甲状腺SPECT显像正常 1例 ,弥漫性肿大 3例 ,异位 7例 ,发育不良 1例 ,7例不显影。 2 0例患儿骨龄X线检查 ,其中 6例正常 ,7例由发育迟缓转为正常 ,7例骨龄延迟尚未恢复 [其中 3例年幼正在恢复中 ,另 3例甲状腺缺如患儿 (9～12岁 )和首例患者 (18岁 )恢复较慢 ]。智商 (IQ)检查 16例 ,其中 13例 (81 3 % )中等以上 (IQ 80～119) ,2例处于边缘 (正常与低下之间 ,IQ 72～ 77) ,1例低下 (IQ 60 ,自行停药所致 )。其中 6例甲状腺缺如患儿 (IQ 72～ 10 1)多在中下水平 ,可能与胎儿时期影响较大有关。结论 新生儿先天性甲低筛查是防治该病的有效措施 。

Objective To observe the incidence, the curative rate and the long term prognosis of congenital hypothyroidism (CH) newborns detected by screening pr ogram in Tianjin area initiated at the beginning of 1982. Methods Primarily, the T 4 and thyroid-stimulating hormone (TSH) radioimmunoassay (RIA ) of dried blood sample on filt er paper developed in our laboratory were used. The TSH RIA was replaced by a ti me-resolved flourescence immunoassay (Tr-FIA) in 1998. The primary T 4 RIA wa s replaced by a commercial kit for T 4 RIA in 1999. SPECT imaging on thyroid wa s performed after intravenous administration of 99 Tc mO - 4 11. 1～18.5 MBq. Results A total of 266 401 neonates was screened for C H in our laboratory in Tianjin area. 36 cases of permanent CH were confirmed in the program. The incidence of CH was 0.014%; 22 cases of CH here were kept in t reatment. Of the 22 cases , 19 cases were recalled in 2000, 18 of them (94.7% ) showed currently with norm al growth and development in the check-up. Imaging on thyroid ( 99 Tc m): among 19 patients with CH, 1 case was found with normal gland, 1 with a hypogene tic thyroid, 3 cases with enlarged thyroid, 7 with ectopic gland, and the remain ing 7 cases didn't show any image of thyroid. The bone age of 20 CH children was evaluated with the X ray radiography. In 6 cases of them, the bone age was norm al, a nd 7 cases had progressed from development delay to normal. So far, retarded bon e age of the remaining 7 CH patients didn't show any renewing yet. The bone age renewal was found in 3 younger children of them, but for the other 3 case s (9～12 years old) of CH patients with thyroid gland absence, the renewal of bo ne age was slower. Intelligence quotient (IQ) in 16 cases was measured. The scor es of IQ in 13 cases of them (81.3%) were 80～119, 2 cases 72～77, 1 case 60. IQ s of 6/16 cases of CH patients with thyroid absence were lower. May be it relate d to that, their hypothyroidism during fetal life was severer. Conclus ions Neonatal screening is an effective measure to cope with congenital h ypothyroidism. If we can do fetal hypothyroidism screening that would be even helpful.