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目的:分析吉林省近5年新生儿苯丙酮尿症(PKU)筛查情况,提供吉林省PKU流行病学基础数据。方法:调查2007年6月～2012年6月在吉林省出生参加新生儿疾病筛查的新生儿,所有筛查对象均在出生72 h并充分哺乳后采集足跟血滴在特定滤纸片上,递送至新生儿疾病筛查中心统一检测血苯丙氨酸(Phe)含量。结果:筛查的585 654例新生儿中,确诊为PKU 154例(其中4例为BH4缺乏型),发病率为1/3 803,确诊PKU阳性患儿接受系统治疗。结论:吉林省PKU发病率高于全国平均水平;新生儿疾病筛查是提高人口素质、防治PKU患儿智力低下的有效措施。
Objective: To analyze the screening of neonatal phenylketonuria (PKU) in Jilin Province in recent 5 years and provide the basic data of PKU epidemiology in Jilin Province. Methods: From June 2007 to June 2012, newborns born in Jilin province who participated in neonatal screening were investigated. All the screening subjects were collected 72 hours after birth and were fully breastfeeding, heel blood drops were collected on specific filter paper and delivered To the neonatal screening centers uniform detection of blood phenylalanine (Phe) content. RESULTS: Among 585 654 neonates who were screened, 154 were diagnosed with PKU (4 were BH4-deficient) with a prevalence of 1/3 803, and were diagnosed with PKU-positive infants receiving systemic treatment. Conclusion: The incidence of PKU in Jilin Province is higher than the national average. Neonatal disease screening is an effective measure to improve the population quality and prevent mental retardation in children with PKU.