新生儿肌酸磷酸激酶水平及其在杜氏肌营养不良症筛查中的应用。
Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy.
作者信息
Drummond L M
出版信息
Arch Dis Child. 1979 May;54(5):362-6. doi: 10.1136/adc.54.5.362.
Abstract
The PKU sample, if taken after the 3rd day, is suitable for Duchenne muscular dystrophy screening using creatine phosphokinase (CPK) levels. 101 babies (53 girls and 48 boys) had CPK levels measured on filter paper blood specimens taken by heel prick on the 1st and 4th days of life. The method used was that described by Zellweger and Antonik (1975). The CPK levels were markedly raised on the 1st day of life but by the 4th they had reduced to within 3 times the upper limit of the normal range for adults. 10,000 boys were then screened for Duchenne muscular dystrophy using the PKU sample, and 2 cases were found.
摘要
苯丙酮尿症样本若在出生后第3天之后采集，则适合用于通过肌酸磷酸激酶（CPK）水平进行杜氏肌营养不良症筛查。101名婴儿（53名女孩和48名男孩）在出生第1天和第4天通过足跟采血在滤纸片血标本上测量了CPK水平。使用的方法是泽尔韦格和安东尼克（1975年）所描述的方法。CPK水平在出生第1天显著升高，但到第4天时已降至成人正常范围上限的3倍以内。然后使用苯丙酮尿症样本对10000名男孩进行杜氏肌营养不良症筛查，发现了2例病例。
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