232 213例新生儿苯丙酮尿症筛查结果分析

Analysis of screening results of phenylketonuria in 232 213 neonates

目的分析陕西省宝鸡市232 213例新生儿苯丙酮尿症筛查结果以及发展方向。方法选择2012年1月至2017年12月在宝鸡妇幼保健院遗传优生实验室进行苯丙酮尿症筛查的232 213例新生儿作为研究对象。采集新生儿4滴足跟血,用荧光测定法对其苯丙氨酸水平进行测量,筛查苯丙酮尿症。统计每年的苯丙氨酸阳性率以及苯丙酮尿症筛查阳性例数;观察新生儿苯丙酮尿症的治疗情况。结果初次筛查有1 102例为阳性,最终确诊为73例苯丙酮尿症阳性病例,19例新生儿有苯丙酮尿症家族史,新生儿苯丙酮尿症发病率为1/3 181。其中,轻度高苯丙氨酸血症36例,轻度苯丙酮尿症28例,经典型苯丙酮尿症8例,四氢生物蝶呤缺乏症1例。经过系统治疗的苯丙酮尿症患儿的智力发育以及体格发育均较好。结论新生儿疾病筛查可以对苯丙酮尿症进行有效的早期诊断,通过早筛查、早诊断、早治疗,可以降低智障的发生率,提高宝鸡市儿童的保健水平,值得临床推广应用。

Objective To analyze the screening results and development direction of phenylketonuria in 232 213 neonates in Baoji city of Shaanxi province. Methods From January 2012 to December 2017, a total of 232 213 neonates screened for phenylketonuria in the genetic eugenics laboratory of baoji maternal and child health care hospital were selected as the study objects. Four drops of neonatal heel blood were collected and phenylalanine level was measured by fluorescence method to screen for phenylketonuria. The annual positive rate of phenylalanine and the number of positive cases of phenylketonuria screening were calculated. The treatment of neonatal phenylketonuria was observed. Results There were1 102 positive cases in the initial screening, and 73 positive cases of phenylketonuria were finally diagnosed, 19 neonates had a family history of phenylketonuria, and the incidence of neonatal phenylketonuria was 1/3 181. Among them, 36 cases were mild hyperphenylalanine, 28 cases were mild phenylketonuria, 8 cases were classical phenylketonuria and 1 case were tetrahydrobiopterin deficiency. The mental development and physical development of children with phenylketonuria after systemic treatment are better. Conclusion Neonatal disease screening can effectively diagnose phenylketonuria at an early stage. Early screening, diagnosis and treatment can reduce the incidence of mental retardation and improve the health care level of children in baoji city, which is worthy of clinical promotion and application.