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目的通过对苯丙酮尿症(phenylketonuria,PKU)疾病的筛查,研究石家庄市新生儿苯丙酮尿症的发病情况及临床类型,以便做到早确诊、早治疗。方法新生儿出生后72h,喂足6次母乳后采足跟血,滴到美国产新生儿筛查S&$903专用滤纸片上,自然晾干制成干血斑,应用化学方法测定苯丙氨酸(Phe)浓度Phe≥2mg/dl进行检查。结果与结论1997.7～2008.9共筛查153 679例新生儿,确诊PKU患儿24例,发病率为1/6403。高于我国PKU发病率平均水平1/11 180,符合我国PKU发病率北方地区高于南方地区的规律。
Objective To investigate the incidence and clinical types of neonatal phenylketonuria in Shijiazhuang through screening of phenylketonuria (PKU) diseases in order to achieve early diagnosis and early treatment. Methods The newborn fetus was collected 72 h after breast feeding six times and then blood was applied to the US-made neonatal screening filter paper S & $ 903, dried naturally to make blood spots, and the chemical method was used to determine phenylalanine Phe) concentration Phe ≥ 2mg / dl check. RESULTS AND CONCLUSIONS A total of 153 679 newborns were screened from 1997.7 to 2008.9. Of the 24 confirmed PKU infants, the incidence was 1/6403. Higher than our average incidence of PKU 1/11 180, in line with the incidence of PKU in the northern region higher than the laws of the South.