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目的 对广州市先天性甲状腺功能低下 (CH)新生儿的筛查及随访进行总结。方法 测定生后 3d新生儿足跟血滤纸干血片的促甲状腺激素 (TSH) ,TSH大于切值者为筛查阳性 ,召回测血清T4 和TSH确诊、摄膝关节X线片测定骨龄 ,并结合临床进行诊断。用甲状腺素替代治疗。结果 11a共筛查 2 5 7880例新生儿 ,检出CH 60例 ,发病率为1/ 4 2 98。经治疗 ,平均身高 1岁时为 ( 75± 3 2 )cm ,2岁时 ( 87± 3 6)cm ,Gesell法智力测查平均发育商 (DQ) 1岁时为 98 9± 8 8,2岁时为 99 5± 9 1,3岁时为 88± 11 2。结论 新生儿筛查是CH早期诊治的唯一方法 ,检出率与实验方法有关 ,筛查检出的CH经替代治疗后身高和智力发育平均水平可达正常 ,治疗越早 ,效果越好。实施新生儿筛查时必须及早递送和检测标本 ,严格实验质控 ,及时召回确诊 ,早期足量治疗和长期随访。
Objective To summarize the screening and follow-up of neonates with congenital hypothyroidism (CH) in Guangzhou. Methods Thyroid-stimulating hormone (TSH) was measured in neonatal hematological dry-blood filter of neonatal hemodialysis on postnatal day 3. The TSH values above the cut-off value were positive for screening. The patients were recalled for serum T4 and TSH diagnosis. Knee joint X-ray was used to determine the bone age Combined with clinical diagnosis. Thyroid hormone replacement therapy. Results A total of 25 7880 newborns were screened for 11a, with 60 CHs detected, with a prevalence of 1/4298. After treatment, the average height was 75 ± 32 cm at 1 year of age and 87 ± 36 cm at 2 years. The mean age at birth (DQ) of Gesell’s IQ test was 98 9 ± 8 8,2 99 5 ± 9 at age 88 ± 11 2 at 1, 3 years. Conclusions Neonatal screening is the only method for early diagnosis and treatment of CH. The detection rate is related to the experimental method. The average CH and height of CH after screening are normal after treatment. The earlier the treatment, the better the effect. The implementation of newborn screening must be delivered and tested early specimens, strict quality control tests, timely recall of the diagnosis, adequate early treatment and long-term follow-up.