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目的:通过对新生儿苯丙酮尿症(PKU)的筛查,研究沧州地区新生儿PKU的发病情况及临床分型,以便做到早诊断、早治疗。方法:本研究纳入2001年12月~2014年12月期间782562例新生儿进行筛查PKU,将出生后满72小时,哺乳6次以上的新生儿,采集足跟血3滴,制成滤纸干血片,应用荧光测定法检测苯丙氨酸(Phe)浓度,筛查PKU。结果:筛查782562例新生儿中,初次筛查阳性800例,最终确诊PKU73例,发病率1/10720。结论:新生儿疾病筛查是早期诊断PKU有效措施之一,通过早筛查、早干预、早治疗,减少智障的发生,提高沧州市儿童保健水平。
Objective: To investigate the incidence and clinical types of neonatal PKU in Cangzhou by screening neonatal phenylketonuria (PKU) in order to achieve early diagnosis and early treatment. Methods: In this study, 782,562 newborns were enrolled in the PKU between December 2001 and December 2014. The neonates who were born 72 hours after birth and breastfeeding for more than 6 times collected 3 drops of heel blood to make filter paper Blood films, fluorescence detection of phenylalanine (Phe) concentration, screening PKU. Results: Of the 782,562 newborns, 800 were initially screened and 73 were finally diagnosed with PKU, the incidence of which was 1/10720. Conclusion: Neonatal disease screening is one of the effective measures for early diagnosis of PKU. Early screening, early intervention and early treatment can reduce the incidence of mental retardation and improve the level of child health care in Cangzhou.