【摘要】 目的 总结先天性甲状腺功能减低症(congenital hypothyroidism,CH)新生儿筛查和诊治经验。方法 新生儿出生后72h采足跟血,滴在规定的滤纸上。采用时间分辨荧光免疫法测定TSH浓度,TSH大于切割值(>15mμ/L),召回病人做确诊检查。确诊后给予治疗并随访。结果 1997～2000年对湖南省部分地区新生儿46 323例筛查,确诊CH 25例,漏检3例。经治疗的患儿智能体格发育正常。结论 新生儿筛查能使CH早期诊断和治疗成为可能;建立质量保证体系对新生儿筛查质量管理具有重要作用;必须对那些漏检的CH患儿保持警觉。更多还原

【Abstract】 Objective To get experience for the neonatal screening, diagnose and treatment for congenital hypothyroidism (CH). Methods Samples of the heel blood collected from newborn after 72 hours, and dropped on stipulated filter paper to determine the TSH concentration of blood applying time-resolved fluorometry (DELFIA). If the result is higher than the cutoff (>15 mμ/L), we call back the child and do the diagnosis test. The child will receive proper treatment once has been diagnosed. Results The screening center had begun the screening for part of the 46 323 neonates of Hunan from 1997 to 2000. 25 children were diagnosed as congenital hypothyroidism. 3 cases with congenial hypothyroidism undetected by screening. Conclusion Neonatal screening is the only method for early diagnose and treatment of CH. To establish quality assurance program has an important role in the good quality management of the neonatal screening. Pediatricians must be alert to the existence of the patients with CH undetected by neonatal screening.更多还原