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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 investigate the screening, treatment, follow-up and efficacy evaluation of congenital hypothyroidism. TSH levels were detected by time-resolved fluorescence immunoassay in the screening methods. Thyroid function was detected by automated chemiluminescence analyzer in suspicious children, and 4 ~ 10μg / kg.d of L-thyroxine sodium was given after treatment. Three years later, withdrawal observation, combined with thyroid ultrasound B, physical development evaluation, bone age assessment and intelligence testing for comprehensive evaluation. Results A total of 153 951 newborn infants were screened out and 60 cases were detected with a low incidence of 0.39 ‰. 54 cases of persistent treatment of children with normal physical development, mental development and the normal control group, the difference was not statistically significant, 48 people did thyroid B ultrasound, of which 1 case of thyroid absence, 4 cases of thyroid gland, 29 cases of goiter or Slightly larger, 14 normal thyroid. Twenty-seven patients were evaluated for efficacy, 14 with a temporary hypothyroidism, 11 with primary hypothyroidism and 2 with subclinical hypothyroidism. Conclusion Neonatal screening, combined with early safe and effective treatment and long-term follow-up, can prevent the occurrence of congenital hypogonadal deformity and ensure the normal physical and mental development of children.