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目的探讨中山市新生儿疾病筛查中心10年苯丙酮尿症(PKU)筛查情况和发病率。方法取72小时,充分哺乳8次以上的168 466例新生儿足跟末梢血,应用荧光定量法测定血苯丙氨酸(phe)水平,对PKU患儿实施phe饮食控制。结果在168 466例新生儿中检出phe增高(phe≥2mg/dl)的可疑患儿30例,经血清氨基酸分析,确诊PKU患儿5例,均为经典型PKU,总发病率为1/33693.PKU患儿经治疗后智力明显提高,临床各项指标恢复正常。结论中山地区PKU发病率低于全国水平,PKU患儿早期确诊、早期治疗效果满意,各级政府部门和医疗保健机构应加强新生儿筛查工作,进一步提高筛查覆盖率,降低PKU患儿残疾发生率,提高中山地区出生人口素质。
Objective To investigate the screening and incidence of phenylketonuria (PKU) in Zhongshan Neonatal Disease Screening Center for 10 years. Methods A total of 168 466 newborn heel peripheral blood samples were collected for 72 hours and fully breastfeeding for more than 8 times. The level of Phe was determined by fluorescence quantitative method and phe diet was administered to children with PKU. Results Susceptible children with elevated phe (phe ≥ 2 mg / dl) were detected in 168 466 newborns. Serum amino acid analysis confirmed 5 children with PKU, all of which were classical PKU with a total incidence of 1 / 33693.PKU children after treatment significantly increased intelligence, clinical indicators returned to normal. Conclusions The incidence of PKU in Zhongshan is lower than the national average level. Early diagnosis and early treatment of PKU children are satisfactory. Government departments at all levels and health care institutions should strengthen screening of neonates to further improve screening coverage and reduce PKU children with disabilities Incidence, improve the quality of birth population in Zhongshan.