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目的分析2002年-2006年泉州地区新生儿苯丙酮尿症(PKU)筛查状况。方法新生儿出生后72h足跟采血,滴在特殊的滤纸(美国S&S903滤纸)片上,用荧光法定量测定苯丙氨酸(Phe)浓度。Phe>2.0mg/dl召回复查,结果仍超过2.0mg/dl送上海市新华医院确诊。结果五年共筛查新生儿224917例,疑似PKU240例,确诊6例(其中一例四氢生物蝶呤缺乏)。PKU发现率1/37486。结论新生儿疾病筛查是PKU患儿早期诊断的有效方法,是开展PKU早期治疗,防止智力低下残疾儿发生的有效手段。
Objective To analyze the screening status of neonatal phenylketonuria (PKU) in Quanzhou from 2002 to 2006. Methods The newborn fetus blood was collected 72 h after birth and dripped on a special filter paper (S & S903 filter paper). The concentration of phenylalanine (Phe) was determined by fluorescence method. Phe> 2.0mg / dl recall review, the result is still more than 2.0mg / dl sent to Shanghai Xinhua Hospital diagnosed. Results A total of 224917 newborns were screened in five years. Suspected PKU240 cases were diagnosed in 6 cases (one of them was lack of tetrahydrobiopterin). PKU discovery rate 1/37486. Conclusion Neonatal disease screening is an effective method for early diagnosis of PKU in children and is an effective means to prevent the onset of mental retardation in children with early treatment of PKU.