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河南地区苯丙酮尿症的筛查和治疗 被引量:2

Screening and management of phenylketonuria in Henan Province
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摘要 目的 :探讨河南地区苯丙酮尿症 (PKU)的发病率及治疗效果 ;方法 :非选择的新生儿 46778例 ,出生后 72小时充分哺乳后足跟采血 ,应用细菌抑制法测血标本中苯丙氨酸 (Phe)含量 ,凡确诊病人立即服用低Phe奶粉及食物并定期进行体格发育、智力发育及Phe含量监测。结果 :46778例新生儿中PKU病人 4例 ,发病率 1/ 11695与我国其它地区的发病率相比偏高。结论 :河南地区PKU发病率为 1/ 11695 ,略高于我国总的发病水平 。 Objective:?In order to research for morbidity rate of phenylketonuria(PKU) and management effect on patient with PKU in Henan province.Methods:?Phenylalanine level in serum of 46,778 neonate(within 72 hours),which is from 52 hospitals in Henan province,who were fed well were measured by bacterium inhibition.Infant with PKU had been giving low phenylalanine food.Measured regularly in phenylalanine level、physical development and intellectual development.Results:?Patients with PKU were screened out from 46,778 cases.Early management has a good effect.Conclusion:?Morbidity rate of patients with PKU in Henan province is higher than that of other area in China.Early management effect is significant.
出处 《河南医学研究》 CAS 2000年第1期78-79,共2页 Henan Medical Research
关键词 苯丙酮尿症 新生儿筛查 治疗 发病率 phenylketonuria neonatal screening treatment morbidity rate
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参考文献3

  • 1Diet. Management of PKU for Infants 8L Preschool Children U.S. Department of Health Education and Welfare[S].1997:14
  • 2Scriver CE. The Metabolic Basis of Inherited Disease[M].6th ed. New york: McGraw-Hill,1989:495~533
  • 3刘慎如.苯酮尿症110例临床分析[J].北京医科大学学报,1993,25(1):47-48. 被引量:4

二级参考文献3

  • 1Wang Tao,Genomics,1991年,10卷,449页
  • 2罗会元,1990年
  • 3左启华,小儿神经系统疾病,1981年

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