Zellweger H, Antonik A
Pediatrics. 1975 Jan;55(1):30-4.
Duchenne muscular dystrophy (DMD) occurs in about 1 of 3,000 to 4,000 boys. Laboratory evidence of the disease, notably elevated creatinephosphokinase (CPK), is present already in the newborn infant. Unspecific CPK elevation occurs in the newborn as well, yet disappears shortly thereafter, while in DMD patients the CPK remains high throughout infancy. A new method to reliably determine CPK in a drop of dried blood is described. The method fulfills the criteria given for a suitable screening method in the newborn infant. Although DMD is an incurable disease, early diagnosis has benefits. The latter include early beginning of supportive treatment and particularly recognition of heterozygous carriers of the mutant gene before other affected children are born in a stricken family. It is proposed to adopt the method as a new screening procedure for male newborn infants.
杜兴氏肌肉营养不良症（DMD）在每3000至4000名男孩中约有1例发病。该病的实验室证据，尤其是肌酸磷酸激酶（CPK）升高，在新生儿期就已存在。新生儿也会出现非特异性CPK升高，但此后不久就会消失，而DMD患者的CPK在整个婴儿期都保持高位。本文描述了一种可靠地测定一滴干血中CPK的新方法。该方法符合新生儿适宜筛查方法的标准。虽然DMD是一种无法治愈的疾病，但早期诊断是有益的。后者包括尽早开始支持治疗，特别是在患病家庭中有其他患病儿童出生之前识别突变基因的杂合子携带者。建议采用该方法作为男婴的一种新的筛查程序。
