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目的分析宝鸡市眉县地区新生儿筛查结果,探讨该县苯丙酮尿症(PKU)及先天性甲状腺功能减低症(CH)的发病情况。方法对2007年7月~2014年12月所采集辖区内20 719例新生儿滤纸干血斑送市筛查中心,采用时间分辨荧光分析法(Tr-FIA)检测干血斑TSH和Phe浓度,回顾分析PKU和CH检出情况。结果 8年间共检出CH患儿7人(男4例,女3例),发病率为1:2960;PKU患儿8人(男4例,女4例),其中BH4缺乏症1例,发病率为1∶2590。结论 CH发病率低于2014年全市发病率1∶1697,高于我国CH发病率1∶3009。8年间PKU发病率为1∶2590,明显高于宝鸡市1∶3129和全国1∶11 188的发病率,并有BH4缺乏症1例检出。摸清眉县CH、PKU发病的本底资料,为指导今后筛查工作的开展以达到早诊断、早干预、早治疗,避免残疾儿出生具有积极的指导意义。
Objective To analyze the results of neonatal screening in Mei County of Baoji City and investigate the incidence of phenylketonuria (PKU) and congenital hypothyroidism (CH) in this county. Methods Totally 20 719 neonatal filter paper dried blood spots were collected from July 2007 to December 2014 and sent to the screening center. The concentrations of TSH and Phe in dried blood spots were detected by time-resolved fluorescence analysis (Tr-FIA) Retrospective analysis PKU and CH detected. Results A total of 7 CH children (4 males and 3 females) were detected in 8 years. The incidence rate was 1: 2960. There were 8 children with PKU (4 males and 4 females), among which 1 was BH4 deficiency, The incidence rate is 1:2590. Conclusions The incidence of CH is lower than the incidence rate of 1:1697 in the whole city in 2014, higher than the incidence rate of CH in our country of 1: 3009. The incidence of PKU in 8 years is 1:2590, which is obviously higher than that of Baoji City at 1: 3129 and at the national level of 1:11188 Incidence, and BH4 deficiency detected in 1 case. The background information about the incidence of CH and PKU in Cingmei County is to guide the future screening work in order to achieve the early diagnosis, early intervention, early treatment and avoid the birth of disabled children has a positive guiding significance.