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1284例新生儿初次筛查时3例阳性,其中2例继续追踪时转阴性,另1例于生后75小时检出阳性,经继续检查确诊为苯酮尿症,并于生后1个月开始饮食疗法。 与此同时还测定了5例苯酮尿症患儿、7例可疑患儿和苯酮尿症携带者(包括Guthrie氏过筛试验、血清苯丙氨酸荧光测定、尿三氯化铁和二硝基苯肼试验),试验结果相互对照基本符合。 根据以上情况作者认为Guthrie氏过筛试验是一个简便易行、敏感性高、特异性强的方法,可适用于新生儿期Pku的大规模筛查。
In the first screening of 1284 newborns, 3 cases were positive at the first screening, 2 of them were negative when they were followed up and the other 1 case was positive at 75 hours after birth. Phenylketonuria was confirmed after continued examination and 1 month after birth Start diet therapy. In addition, 5 children with phenylketonuria, 7 children with suspected ketones and carriers of phenylketonuria (including Guthrie’s screening test, serum phenylalanine fluorometry, urinary ferric chloride and bis Nitrophenylhydrazine test), the test results basically in line with each other. According to the above situation, the author thinks Guthrie sifting test is a simple, sensitive and specific method that can be applied to the large-scale screening of Pku in neonatal period.