【摘要】 目的 :早期诊断先天性甲状腺功能减退症 (congenitalhypothyroidism ,CH)患儿 ,预防智力低下儿的发生。方法 :采用时间分辨荧光免疫法测定促甲状腺素 (thyroid stimulatinghormone,TSH)浓度 ,如果TSH筛查呈阳性 ,则使用化学发光免疫法 (chemiluminescentimmunoassay ,CLIA)测定血清TSH、游离三碘甲状腺原氨酸 (freetriiodothy ronine,FT3)、游离四碘甲状腺原氨酸 (freethyroxin ,FT4 ) ,并结合临床确诊。 结果 :湖南省 1997年 4月至 2 0 0 3年12月 10 6 2 2 4份标本中共检出CH患儿 6 8例 ,检出率 1/15 6 2 ,明显高于全国平均水平 (1/30 0 9)。结论 :(1)新生儿筛查是早期诊治CH患儿 ,预防CH发生智力低下的关键 ;(2 )湖南为CH高发地区 ;(3)检出率与科学技术的发展呈相关性 ,累加检出率能更真实地反映发病率 ;(4)选择适当切值有助于防止漏筛。更多还原

【Abstract】 Objective: Diagnosing congenital hypothyroidism (CH) early was studied in this paper through neonatal screening to prevent children’s mental retardation. Methods: The first step is mensurating the concentration of thyroid stimulating hormone (TSH) with the method of time-distinguished fluorometry immunoassay. If the result is positive, then it is necessary to mensurate the serum TSH,free triiodothyronine (FT3),free thyroxin (FT4) with chemiluminescence immunoassay (CLIA) and execute clinical diagnosis. Results: There were 68 confirmed congenital hypothyroidism patients among the 106 224 samples from Apr.1997 to Dec.2003 in Hunan province. The positive rate was 1/1 562, which was obviously higher than the national average value (1/3 009). Conclusion: First, neonatal screening is the key to prevent mental retardation through early diagnosing and treating CH. Second, the probability of suffering CH is high in Hunan province. Third, the positive rate is relative to the development of science and technology, while the accumulated rate is better to reflect the real incidence of the disease. Fourth, selecting proper critical value will help to prevent missing screening.更多还原