先天性甲状腺功能减低症筛查结果及治疗随访分析

目的了解佛山市先天性甲状腺功能减低症的发病率、分布特点及治疗随访情况,以促进佛山市新生儿疾病筛查工作更好开展。方法分析佛山市2007年1月至2009年6月期间新生儿先天性甲状腺功能减低症（CH）的筛查结果及治疗随访情况,筛查阳性病例采用化学发光法检测血清中游离三碘甲状腺原氨酸（FT3）、游离甲状腺素（FT4）及促甲状腺激素（TSH）水平,确诊病例按疾病诊疗常规进行治疗和随访。结果共筛查169 530例新生儿,确诊先天性甲状腺功能减低症73例,发病率1/2322,确诊年龄为10～30天,平均14.5天,发病患儿以暂住人口所生子女居多,以禅城及南海两区居多,确诊者立即开始治疗,并定期至筛查中心进行随访。结论通过新生儿筛查可早期诊断先天性甲状腺功能减低症,并早期进行治疗随访,减少患儿智力低下的发生,提高人口素质。

Research on screening results and treatment of congenital hypothyroidism

Objective: To study the incidence,clinical characters,treatment and follow-up of congenital hypothyroidism(CH) in Foshan,and to promote the carrying out of newborn screening much better in Foshan.Methods: To investigate the newborn screening results of patients diagnosed CH from January 2007 to June 2009 in Foshan,and to analyse the treatment and follow-up of CH.Infants with elevated TSH level of higher than 10 mIU/L were recalled for tests of serum FT3,FT4 and TSH,infants with CH were treated and followed-up in the newborn screening center.Results: 169 530 filter paper samples were tested,73 infants with CH were diagnosed,the incidence of CH in Foshan was 1∶2322,the average age of infants when they were diagnosed with CH was 14.5d.The most parents of these infants were temporary resident in Foshan.As soon as the infants were diagnosed with CH,they were treated and followed-up in the newborn screening center.Conclusions: CH can be early diagnosed and treated through newborn screening,to reduce the occurrence of mental retardation in infants with CH and to improve population quality.