影响新生儿苯丙酮尿症筛查实验阳性结果的因素分析  

Analysis of Positive Results of Neonatal Screening Test for Phenylketonuria.

作　　者：宋诚燕[1] 马燮琴[1] 林本衡[1] 汤雪微[1] 

机构地区：[1]广东省广州市妇婴医院新生儿筛查中心,510180

出　　处：《中国儿童保健杂志》2000年第1期14-15,共2页Chinese Journal of Child Health Care

摘　　要：【目的】　对新生儿苯丙酮尿症筛查实验阳性结果的因素进行分析。【方法】　本院出生的新生儿１２ ０７８例，均取出生４８ ～７２ 小时充分哺乳后的足跟血滤纸片标本，以荧光法测定新生儿滤纸干血斑苯丙氨酸含量。凡苯丙氨酸（ｐｈｅ） ≥０ ．１２ ｍ ｍ ｏｌ／Ｌ（２ ｍ ｇ／ｄｌ） 者为实验阳性，则召回婴儿取第二张血纸片标本进行复查。【结果】　１２ ０７８ 例标本中，初次筛查检出２４ 例阳性结果，其ｐｈｅ 浓度在０ ．１４ ～０ ．４７ ｍ ｍ ｏｌ／Ｌ 之间；召回第二张血纸片复查，血ｐｈｅ 浓度均降至正常。检出的２４ 例中，早产儿１２ 例，足月小样儿１０ 例。２４ 例中２０ 例（８３ ％ ） 均合并病理情况，以新生儿高胆红素血症为多见。【结论】　从本文资料所见，早产儿、足月小样儿或合并新生儿疾病都会影响苯丙氨酸羟化酶活性的一过性减低。Objective To Analyse the positive results of neonatal screening test for phenylketonuria(PKU). Methods 12 078 babies born from the hospital were screened.A heel prick blood sample was collected after 48～72 hours postnatally with feeding enough.With Fluorometric determination of phenylalanine (phe) from blood specimens dried on filter paper(Labsystems Co),the concentration of phe≥0.12 mmol/L(2mg/dl) was considered as positive and recalled for second blood sample to be repeated. Results 24 positive results in 12 078 initial screened samples showed blood phe levels were 0.14～0.47mmol/L,but those racalled second blood samples were normal,in which 12 cases were premature,10 cases with small for gestation age.20 Cases (83%) of 24 positive results complicated some diseases,most of them with hyperbilirubinemia. Conclusion The above abnormal conditions may delay the activity of phenylalanine hydroxylase temporarily.

关 键 词：新生儿筛查 苯丙酮尿症 实验阳性 

分 类 号：R725.893[医药卫生—儿科]