延边地区2013—2017年新生儿疾病筛查治疗及随访结果分析

Analysis of screening,treatment and follow-up results of neonatal disease in Yanbian area from 2013 to 2017

[目的]分析延边地区2013—2017年间新生儿苯丙酮尿症(PKU)、高苯丙氨酸血症(HPA)及先天性甲状腺功能减低症(CH)的筛查治疗及随访情况.[方法]选择2013年1月至2017年12月间延边新生儿疾病筛查中心筛查出的PKU患儿5例、HPA患儿12例、CH患儿16例,及时给予药物和饮食干预治疗,12月龄时随访,采用儿心发育量表测定发育商(DQ),并与正常同龄儿童进行比较.[结果]12月龄时,HPA、PKU患儿与正常同龄儿童比较精细动作、大运动、语言交流和社交等各项指标差异均无统计学意义(P>0.05),且适应性较正常儿童显著升高(P<0.05);CH患儿与正常同龄儿童比较精细动作、大运动、适应性、语言交流、社交等各项指标和身高、BMI差异均无统计学意义(P>0.05).[结论]对新生儿进行PKU、HPA、CH筛查,及早给予药物和饮食干预治疗具有重要意义.

OBJECTIVE To analyze the screening,treatment and follow-up of neonatal phenylketonuria(PKU),hyperphenylalaninemia(HPA)and congenital hypothyroidism(CH)in Yanbian area from 2013 to 2017.METHODS Five children with PKU,12 children with HPA,and 16 children with CH who were screened by Yanbian Neonatal Disease Screening Center from January 2013 to December 2017 were selected.They were given timely medication and dietary intervention treatment,and followed up at the age of 12 months.Developmental quotient(DQ)was measured by the child heart development scale,and compared with normal children of the same age.RESULTS There were no statistical differences in fine motor,gross motor,linguistic communication,social ability and other indicators between child patients with HPA and PKU at the age of 12 months and normal children of the same age(P>0.05).The adaptability of child patients was significantly higher than that of normal children(P<0.05).There were no significant differences in fine motor,gross motor,adaptability,linguistic communication,social ability and other indicators,height and BMI between child patients with CH and normal children of the same age(P>0.05).CONCLUSION It is of great significance to screen for PKU,HPA and CH in neonates and give early medication and diet intervention.