淄博市新生儿苯丙酮尿症筛查与治疗效果分析

An analysis of screening results of phenylketonuria of newborn in Zibo city

目的探讨淄博市新生儿苯丙酮尿症的发病率和治疗效果。方法出生后72小时经6次以上母乳喂养的新生儿,足跟采血,使血自然流出,滴于S&903专用滤纸上,渗透反正两面,室温下自然干燥,应用芬兰Wallac1420多标记免疫分析仪及全套试剂检测苯丙氨酸浓度。结果对淄博市305977名新生儿进行筛查,苯丙酮尿症筛查阳性者48例,其中经典苯丙酮尿症34例,四氢生物喋呤缺乏型1例,高苯丙氨酸13例。其中男:女为0.92:1。经治疗48例苯丙酮尿症患儿年龄别体重达到正常者为89.66%,年龄别身高达到正常者为82.76%,智力正常者占89.70%,智力可疑者占10.30%,正常脑电图占93.10%,血片苯丙氨酸值控制理想者占95.20%。结论经筛查,淄博市新生儿苯丙酮尿症发病率为1/6375,符合我国北方地区发病率高的规律,与山东其他城市相比,发病率偏高。

Objective To investigate prevalence rate and outcomes of neonatal phenylketonuria （PKU） in Zibo city, Shandong province. Methods At 72 hours after birth, heel blood sample of neonate who was breast-fed more than six times was taken. The natural outflow of blood was dropped on the S＆903 special filter paper, the two sides of the filter paper were infiltrated and were dried naturally at room temperature. Finland Wallac 1 420 multidabling immunoanalyzer and full set of test agents were used to detect level of phenylalanine （Phe）. Results 305 977 neonates in Zibo city were screened and 48 neonates with PKU were identified, of which, classic PKU were seen in 34 neonates, BH4 lack type PKU was seen in 1 neonate and hyperphenylalaninemia were seen in 13 neonates. The ratio of male ： female was 0.92：1. After treatment, 89.66% of the neonates had normal age-for body weight, 82.76 of them had normal age-for body height, 89.7% of them had normal intelligence, 10.30% of them had suspected intelligence, 93.10% of them had normal EEG and value of Phe in slide of 95.20% of them was controlled satisfactorily. Conclusion The prevalence rate of neonatal PKU is 1/6 375, which is in conformity with the high incidence of PKU in the northern China. However, compared with other cities in Shandong province, it is higher.