新生儿先天性甲状腺功能减低症的筛查与治疗随访  

Screening and Follow-up Analysis of Neonatal Congenital Hypothyroidism

作　　者：李丹[1] 姚爱玲[1] 李茜 LI Dan;YAO Ailing;LI Qian(Department of Genetics Room,Liaoning Maternal and Child Health Hospital,Shenyang 110005,China)

机构地区：[1]辽宁省妇幼保健院遗传室,辽宁沈阳110005

出　　处：《中国医药指南》2021年第2期71-73,共3页Guide of China Medicine

摘　　要：目的分析新生儿先天性甲状腺功能减低症的筛查情况与治疗随访结果。方法选取2014年1月至2018年12月于我院出生的96 868例新生儿,采集72 h内出生的新生儿足跟血,滴于滤纸,对血斑中的促甲状腺激素(TSH)进行检测,召回阳性患儿,开展进一步检测,检测内容包括游离三碘甲状腺原氨酸、静脉血TSH、游离四碘甲状腺原氨酸。对于检测后确诊者,每日给予左旋甲状腺素钠替代治疗。随访期间进行体格检测与智能测试。结果本研究共筛查96 868例新生儿,确诊为先天性甲状腺功能减低症32例,发病率为0.033%。经积极治疗后,患儿1岁时体质量为(10.10±2.00)kg,身高为(75.20±3.10)cm;2岁时体质量为(12.00±1.60)kg,身高为(87.30±3.50)cm,均达到同龄正常儿水平。智能测试结果显示,31例患儿智力发育均正常,仅1例患儿出现智力低下。结论对于经新生儿疾病筛查确诊的先天性甲状腺功能减低症患儿,临床应尽早实施激素替代治疗,以促使患儿体格、智能的正常发育。Objective To analyze the screening and follow-up results of treatment for neonatal congenital hypothyroidism. Methods A total of 96 868 newborns born in our hospital from January 2014 to December 2018 were selected. Heel blood of newborns born within 72 hours was collected and dripped on filter paper. The thyroid stimulating hormone(TSH) in blood spots was measured. Recall test positive children for further testing, including free triiodothyronine, venous blood TSH, and free tetraiodothyronine. For those diagnosed after testing, levothyroxine sodium replacement therapy is given daily. During the follow-up period, physical examination and intelligence test will be conducted. Results In this study, 96 868 newborns were screened and 32 cases were diagnosed with congenital hypothyroidism, with an incidence rate of 0.033%. After active treatment, the child’s body weight at 1 year old was(10.10±2.00) kg and his height was(75.20±3.10) cm;at 2 years old, his body weight was(12.00±1.60) kg and his height was(87.30±3.50) cm. All reached the level of normal children of the same age. The results of the intelligence test showed that the mental development of 31 children was normal, and only one child had mental retardation. Conclusion For children with congenital hypothyroidism diagnosed by neonatal disease screening, hormone replacement therapy should be implemented as soon as possible to promote the normal physical and intellectual development of the children.

关 键 词：先天性甲状腺功能减低症 新生儿 疾病筛查 智力 随访 

分 类 号：R581.2[医药卫生—内分泌]