目的 分析2011年广州市新生儿苯丙酮尿症(PKU)的筛查情况,促进新生儿遗传代谢疾病的早期诊断及早期有效治疗.方法 标本来源于广州市160家医院,均采集出生后 3～7 d、充分哺乳至少6次以上新生儿的足跟血制成的干滤纸血片,应用化学荧光定量法进行苯丙酮尿症检测,并对2011年广州市新生儿疾病筛查资料进行回顾分析.结果 广州市2011年共筛查199 649例新生儿,筛查出可疑苯丙酮尿症368例,早产或极低体重死亡6例,本中心复查349例,异地复查2例,未召回11例,召回率为97.0%;复查假阳性60例,其中早产低体重儿53例(构成比88.3%);确诊10例,其中早产低体重儿2例(构成比20.0%);确诊病例中经典型PKU患儿7例,轻-中型PKU患儿2例,四氢生物蝶呤缺乏症患儿1例;PKU检出率为0.5/104(1/19 965);治疗率为100%.结论 早产低体重儿在PKU复查假阳性病例中的构成比较在确诊病例中的构成比要高.广州地区PKU发病率低于全国平均水平.%Objective To improve the diagnosis and curative efficacy for phenylketonuria ( PKU) in children. Methods Dried blood papers, which were collected from hell - prick blood sample 3-7 days after birth, were collected from the 160 hospitals in Guangzhou. Fluorometric determination of phenylalanine (phe) were used for PKU diagnosis. Meanwhile, the data of neonatal screening in Guangzhou in 2011 were analyzed retrospectively. Results In 2011, 199649 newborns were screened for PKU, among which 368 cases were positive and 349 (97. 0% ) were recalled for diagnostic test. Among 60 false positive cases, 53 cases (88. 3% ) were premature lower weight. There were 10 cases of PKU were confirmed with the diagnosis with an incidence of 0. 5/104 (1:19 965 ) , among which 2 cases ( 20. 0% ) were premature lower weight. All PKU diagnosed cases got therapy. Conclusion The incidence of premature lower weight newborns in the false positive group is higher than that in PKU group; and the PKU prevalence in Guangzhou is lower than the national average level.
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