摘要
目的分析96868例新生儿苯丙酮尿症的筛查结果,提高出生人口素质。方法对2014年1月至2018年12月96868例新生儿筛查资料进行统计分析,在出生后72 h,充分母乳喂养后采集新生儿足跟血测定其中丙氨酸含量,及时将筛查结果为阳性者召回,规定阳性标准为血苯丙氨酸浓度>103.02μmol/L,经二次复查确诊对治疗结果展开追踪调查。结果本文共筛查96868例新生儿,初次筛查结果显示67例新生儿为阳性病例,最终确诊结果为27例阳性病例,其中2例有苯丙酮尿症家族史,新生儿苯丙酮尿症发病率为0.028%(27/96868);有12例新生儿为苯丙氨酸(Phe)缺乏症,占比44.44%,有10例新生儿为轻度苯丙酮尿症,占比37.04%,有1例新生儿为四氢生物蝶呤(BH4)缺乏症,占比3.70%,有1例为其他代谢病(希特林蛋白缺乏症);在对确诊新生儿治疗情况进行随访发现,其智力、体格均发育良好。结论对新生儿开展疾病筛查工作可实现对苯丙酮尿症的早期有效诊断目的,指导医护人员采用早筛查、早诊断、早治疗等措施降低新生儿智障发生率,提高儿童平均保健水平。
Objective To analyze the screening results of 96868 newborns with phenylketonuria,and improve the quality of the born population.Methods The data of 96868 newborn screening cases from January 2014 to December 2018 were analyzed.After 72 hours of birth,the blood of the heel of the newborn was collected after full breastfeeding to measure the alanine content.The positive results were recalled in time.The positive standard was that the concentration of phenylalanine in blood was over 103.02μmol/L,and the treatment results were investigated after two reexamination.Results A total of 96868 newborns were screened.The first screening results showed that 67 neonates were positive cases.The final diagnosis was 27 positive cases,2 of them had family history of phenylketonuria,and the incidence rate of phenylketonuria was 0.028%(27/96868).Among them,12 newborns were phenylalanine(Phe),accounting for 44.44%,10 of them were mild phenylketonuria(37.04%),and one was tetrahydrobiopterin(BH4),accounting for 3.70%,one was other metabolic disease(Hitler protein deficiency);follow up was conducted on the treatment of confirmed newborns it was found that the intelligence and physique of the patients were well developed.Conclusion The early and effective diagnosis of p-phenylketonuria can be achieved by screening the newborn.The medical staff should be guided to adopt early screening,early diagnosis and early treatment to reduce the incidence of neonatal intellectual disabilities and improve the average health care level of children.
作者
李丹
姚爱玲
李茜
LI Dan;YAO Ailing;LI Qian(Genetics Room,Liaoning Maternal and Child Health Hospital,Shenyang 110005,China)
出处
《中国医药指南》
2021年第7期102-103,共2页
Guide of China Medicine
关键词
新生儿
苯丙酮尿症
疾病筛查
智障障碍
体格障碍
Neonate
Phenylketonuria
Disease screening
Mental retardation
Physical disorder
