新生儿苯丙酮尿症84957例筛查与治疗状况分析

An analysis of screening and treatment of neonatal PKU among 84 957 neonates

目的探讨长春地区新生儿苯丙酮尿症的发病率及治疗情况，以进一步推动新生儿疾病筛查工作的进展。方法采用定量荧光分析法测定新生儿末梢血干滤纸血片中苯丙氨酸浓度，对确诊为苯丙酮尿症的患儿给予低苯丙氨酸饮食治疗，定期检测血苯丙氨酸浓度及体格、智能发育。结果长春地区2005年1月～2008年9月共筛查新生儿84957例，确诊苯丙酮尿症13例，发病率为1：6535，明显高于全国平均水平，早期接受治疗的8例患儿，其体格、智能发育均达到正常水平。结论新生儿疾病筛查是早发现、早诊断苯丙酮尿症的重要措施，尽早采取低苯丙氨酸饮食治疗，严格控制血苯丙氨酸浓度，可避免患儿智能发育受到损伤。

Objective To investigate prevalence rate and treatment of phenylketonuria （PKU） among neonates in Chuangchun city so as to put forward further development of neonatal screening. Methods The quantitative fluorescence analysis method was used to detect concentration of phenylalanine in dry filter paper slice of blood sample taken from medial or lateral margin of heel of the newborn. The neonates who were confirmed diagnosis of PKU were given low-phenylalanine diet and their serum concentration of phenylalanine were regularily detected and their physical and mental development were examined. Results From January, 2005 to September, 2008, 84 957 neonates were screened, and 13 of them were diagnozed as PKU. The prevalence rate of PKU was 1：6 535, which was significantly higher than the national average. The physical and mental development of 8 patients who received early treatment reached to normal ranges. Conclusion Neonatal screening is an important measure to identify and diagnose neonatal PKU. Giving low-phenylalanine dietotherapy and strictly controlling blood concentration of phenylalanine as early as possible can avoid damage in intelligence development of the diseased neonates.