河南省苯丙酮尿症(PKU)筛查及群体分布规律的研究

目的:探讨河南省PKU患儿群体分布情况,发病情况以指导今后筛查工作。方法:非选择新生儿718866例,出生72h充分哺乳后采足跟血,可疑6个月～6岁PKU患儿510例,采手指末梢血,用细菌抑制法测苯丙氨酸(Phe)水平,Phe>240μmol/L为阳性,确诊为PKU。结果:1998～2008年共筛查新生儿718866例,确诊PKU99例,PKU发病率1/7261,可疑6个月～6岁PKU患儿510例,确诊201例。结论:河南省PKU发病率高于全国平均水平和南方大部分地区,河南省北部高于南部,二胎生育PKU发病几率偏高,PKU患儿早期治疗疗效显著。

Screening and group distribute regularity of Phenylketonuria in Henan province

Objective:To explore the group distribute regularity and morbidity of phenylketonuria,guide the future screening.Methods:718 866 unselected new-born's blood were obtained from the heel full in breast-feeding after birth 72h,blood collection form the finger tip from 510 suspicious PKU for 6 month to 6 years.Test blood levels of Phe by bacterium method.when Phe>240 μmol/L for diagnosis.Results:Total 718 866 cases were screened in Henan province during 1998 to 2008,among them 99 cases were diagnose PKU.PKU morbidity rate was 1/7 261;201 cases PKU were diagnosed among the 510 suspicious PKU.Conclusion:PKU morbidity rate in Henan is higher than that of the average level of China and most area in the south China,in Henan province the morbidity rate in the north is higher than that in the south.The second child has a higher morbidity rate than that of the first child.The therapy is effective during the early stages of PKU.