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目的探讨先天性甲状腺功能低下症(甲低)的筛查、治疗方法和随访及疗效评估。方法采用ELISA方法,检测滤纸血斑中促甲状腺素(TSH)水平;对召回的可疑患儿,采用化学发光免疫法检测血清甲状腺功能并进行彩色超声诊断确定甲状腺的形态、功能、发育情况,确诊后予以甲状腺片治疗,正规治疗2-3年后,停药观察,结合甲状腺超声检查、智力测定、及体格检查,进行疗效评估。结果筛查新生儿375 238例,检出甲低128例,发病率1∶2931。超声检查128例:甲状腺异常40例,正常88例。128例发育商均达到85以上,身高与体格质量均达正常。治疗评估:甲低患儿的评估发现,除40例甲状腺发育异常患儿需终身服药外,暂时性甲低中停药60例。甲状腺功能检测正常,41例停药随访12个月,TSH、、T4正常,已终止治疗;19例停药2～1O个月,TSH、T3、T4正常,也可终止治疗。共88例评估为暂时陛甲低;13例停药后TSH上升,恢复治疗9例,为亚临床甲低;余7例TSH波动于正常与异常之间,继续定期随访。1例家长放弃治疗。结论新生儿疾病筛查避免和防止残疾儿童的发生,对提高人口素质,推动国民经济发展有着重要的意义。
Objective To investigate the screening, treatment and follow-up of congenital hypothyroidism (hypothyroidism) and evaluation of curative effect. Methods Thyroid-stimulating hormone (TSH) levels in the blood spots of filter paper were detected by ELISA. Serum thyroid function was detected by chemiluminescence immunoassay and color Doppler ultrasound was used to determine the thyroid morphology, function and development in suspected children Thyroid tablets after treatment, 2 to 3 years after formal treatment, withdrawal observation, combined with thyroid ultrasound, mental tests, and physical examination, the efficacy evaluation. Results A total of 375 238 newborns were screened, and 128 cases were detected with a low incidence of 1:2931. 128 cases of ultrasound: thyroid abnormalities in 40 cases, normal 88 cases. 128 cases of development have reached more than 85, height and physical quality were normal. Treatment evaluation: A low evaluation of children found that, in addition to 40 cases of children with thyroid dysplasia need lifelong medication, temporary hypothyroidism in 60 cases. Thyroid function tests were normal, 41 patients were followed up for 12 months, TSH, T4 normal, has been terminated treatment; 19 cases discontinued 2 ~ 1O months, TSH, T3, T4 normal, but also termination of treatment. A total of 88 patients were evaluated as having a low level of ppolactone. TSH was increased in 13 cases after discontinuation of treatment, and 9 cases were recovered and treated for subclinical hypothyroidism. The remaining 7 cases of TSH fluctuated between normal and abnormal levels and were followed up regularly. One parent gave up treatment. Conclusion Neonatal screening to prevent and prevent the occurrence of disabled children plays an important role in improving population quality and promoting the development of national economy.