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目的回顾性分析江阴市新生儿苯丙酮尿症(PKU)筛查与召回结果,掌握该地区PKU的发病情况。方法选取2002-2014年江阴市接受PKU筛查的新生儿782 562例为研究对象,于出生后72 h且充分母乳后采集足跟血进行苯丙氨酸(Phe)含量的检测。对于筛查结果呈现阳性者及时进行召回,并进行血清标本复查并追踪评价治疗效果。结果 782 562例新生儿中,初筛阳性800例,召回766例,召回率为95.8%。确诊73例,其中轻度高苯丙氨酸血症(HPA)2例,中度PKU 22例,经典型PKU 45例,四氢生物蝶呤缺乏症(BH4D)4例。所有PKU阳性患者经早期诊断及治疗,新生儿智力、体格等均发育正常。结论新生儿疾病筛查是早期诊断PKU十分有效的措施之一,对预防患儿智力与体格发育低下有着较高的临床价值。
Objective To retrospectively analyze the screening and recall results of neonatal phenylketonuria (PKU) in Jiangyin and to know the incidence of PKU in this area. Methods A total of 782 562 newborns who were screened for PKU from 2002 to 2014 in Jiangyin City were selected as subjects. Hepatic blood was collected 72 h after birth and sufficiently breast-fed to detect the content of phenylalanine (Phe). For positive screening results were promptly recalled, and serum samples reviewed and tracked to evaluate the effect of treatment. Results Of the 782 562 neonates, 800 were initially screened, 766 were recalled, and the recall rate was 95.8%. There were 73 confirmed cases, including 2 cases of mild hyperphenylalaninemia (HPA), 22 cases of moderate PKU, 45 cases of classical PKU and 4 cases of tetrahydrobiopterin deficiency (BH4D). All PKU positive patients by early diagnosis and treatment, newborn intelligence, physical development are normal. Conclusion Neonatal disease screening is one of the most effective measures to diagnose PKU in the early stage and has a high clinical value in preventing children with mental retardation and physical development.