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浙江省先天性甲状腺功能低下症筛查分析 被引量:24

Neonatal screening for congenital hypothyroidism in Zhejiang province
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摘要 【目的】 了解浙江省先天性甲状腺功能低下症 (congenitalhypothyroidism ,CH)的发病率及探讨其治疗的最佳剂量 ,以减少智力障碍的发生。 【方法】  1999年 10月 1日~ 2 0 0 2年 9月 3 0日 ,采集 3 5 14 71名出生 48~72h后的新生儿足跟血滴于滤纸血片上 ,采用时间分辨荧光免疫法检测血斑中促甲状腺激素 (thyroid stimulatinghor mone ,TSH)值 ;可疑阳性者再召回取静脉血 ,采用化学发光法检测血清中T3 、T4和TSH浓度 ;确诊为CH的患儿根据病情轻重 ,给予优甲乐 (L T4) [剂量范围 :4.2 3~ 6.77μg/(kg·d) ]治疗 ;定期随访监测其生长及生化指标。治疗到 2岁左右停药检测甲状腺功能并测发育商 (developmentalquotient ,DQ)。  【结果】 可疑阳性患儿 12 95例 ,确诊 2 2 7例 ,发病率 0 .63‰ ;平均治疗 5 1.8d后血清T3 、T4、TSH达到正常范围 ,15人在 2岁左右作DQ测试 ,平均值 112 .5 7( 89~ 14 6)。 【结论】 浙江省CH的发病率高于其它省 ,明显高于北美和欧洲 ,可能与人种和地理环境等因素有关 ;优甲乐的治疗剂量以 4.2 3~ 6.77μg/(kg·d)为宜。 Objectives Congenital hypothyroidism (CH) was the most common cause of preventable mental retardation. Neonatal screening for CH was initiated in 1999 to detect newborns with CH and so as to treat the affected infants as early as possible. The aim of the investigation was to achieve the data of CH among children in Zhejiang province and to get the best treatment dosage of levothyroxine (L-T 4). Thyroid-stimulating hormone(TSH) screening for CH was done from 1999 to 2002 in neonates of 48~72 hours age. Three drops of blood were taken from heels of newborns to the filter papers, then the values of TSH were measured by time-resolved fluoroimmunoassay. Infants with elevated TSH level of greater than 9 μU/ml were recalled for tests of serum triiodothyronine(T 3), thyroxine(T 4) and TSH by chemiluminesence. Infants with CH were treated with L-T 4 4.23~6.77 μg/(kg·d) immediately. Growth and development, serum T 3, T 4, TSH were followed-up every 3 months for at least 2 years. When the infants were about 2 years old, L-T 4 was discontinued for 4 weeks, and then serum T 3, T 4, TSH, thyroid scan were performed. Developmental quotient (DQ) was used to evaluate the patients aged about 2 years. 351 471 filter paper samples were tested. The coverage rate was approximately 34.92% of liveborn infants from Zhejiang province. 227 infants with CH (117 boys and 110 girls) were diagnosed. CH affects about 0.63‰. They also received routine clinical examination, including assessment of growth and development, laboratory evaluation of thyroid function. After 51.8(range: 14~200) days of treatment, the levels of serum T 3, T 4 and TSH were normalized. The mean developmental quotients (DQs) in children with CH aged about 2 years were 112.57 (range: 89~146). [Conclusions] The prevalence of CH of Zhejiang province is higher than that of other countries probably due to variations of races and environment. The L-T 4 dosage of 4.23~6.77 μg/(kg·d) is appropriate for the initial treatment of CH. The overall mental development of children aged about 2 years with CH is satisfactory.
出处 《中国儿童保健杂志》 CAS 2004年第4期277-279,共3页 Chinese Journal of Child Health Care
基金 浙江省重点科技项目基金 (491 0 4 1 0 J30 2 2 6)
关键词 先天性甲状腺功能低下症 新生儿疾病筛查 发病率 治疗 congenital hypothyroidism newborn screening incidence therapy
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