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目的通过回顾性分析河南省2574258例新生儿苯丙酮尿症筛查,了解河南省苯丙酮尿症(PKU)的发病情况。方法新生儿出生72h后,充分哺乳6次以上采足跟血,应用荧光法检测血片中苯丙氨酸(phe)浓度。结果在2011年1月—2013年12月共筛查新生儿2574258例,确诊PKU患儿405例,男220例,女185例,其中经典型PKU 392例,四氢生物蝶呤缺乏症(BH4D)13例,发病率为1/6356。各年度间发病率的差别具有统计学意义(χ2=19.148,P=0.000<0.05)。结论河南省是PKU高发区,为预防PKU患儿智力和体格低下,应大力推动新生儿筛查工作开展,提高出生人口素质。
Objective To investigate the incidence of phenylketonuria (PKU) in Henan Province through a retrospective analysis of 2,574,258 neonates with phenylketonuria in Henan Province. Methods After newborns were born 72h, they were adequately breast-fed for more than 6 times and blood was collected. The concentration of phenylalanine (phe) in the blood was measured by fluorescence method. Results A total of 2,574,258 newborns were screened from January 2011 to December 2013. There were 405 confirmed cases of PKU, including 220 males and 185 females, of whom 392 were classical PKU, BH4D ) 13 cases, the incidence was 1/6356. The incidence of each year was statistically significant (χ2 = 19.148, P = 0.000 <0.05). Conclusion Henan Province is a high incidence area of PKU. To prevent mental retardation and low body weight in children with PKU, we should vigorously promote the screening of newborns and improve the quality of birth population.