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目的:分析2011年1月至2015年12月河南省新生儿遗传性代谢病苯丙酮尿症(PKU)筛查状况,了解其发病情况。方法:对象2011年1月至2015年12月在河南省18个地市1500多家医疗单位出生的新生儿122992例,干血片采取出生72 h后新生儿足跟末梢血,应用荧光法血苯丙氨酸(Phe)的含量。结果:2011年1月至2015年12月河南省活产数1472256人,进行苯丙酮尿症筛查1221992例,筛查率为65.29%;初次筛查检出阳性3575例,Phe浓度在0.012~3.048 mmol·L~(-1)之间;对3575例初筛阳性进行第2次复查,共确诊苯丙酮尿症患儿732例。河南省PKU发病率为1/6693(1.43:10000)。结论:新生儿筛查是PKU患儿得到早期确断和治疗的重要措施,能够减少出生缺陷,提高人口素质的。
Objective: To analyze the screening status of PKU in hereditary metabolic disease of newborn from January 2011 to December 2015 in Henan Province, and to understand its incidence. Methods: From January 2011 to December 2015, 122 992 newborns born in more than 1500 medical units in 18 cities of Henan Province were collected. Dry blood was taken from the heel of the newborn after 72 hours of birth. Fluorescent blood Phenylalanine (Phe) content. Results: From January 2011 to December 2015, the number of live births in Henan Province was 1472256, 1221992 cases of phenylketonuria were screened, the screening rate was 65.29%; 3575 cases were positive for initial screening, Phe concentration was 0.012 ~ 3.048 mmol·L -1; 3575 cases were positive for the second review, a total of 732 cases of phenylketonuria were diagnosed. The incidence of PKU in Henan province is 1/6693 (1.43: 10000). Conclusion: Neonatal screening is an important measure for early diagnosis and treatment in children with PKU, which can reduce the birth defects and improve the population quality.