潍坊市2000~2014年苯丙酮尿症筛查资料回顾分析

目的 了解潍坊市2000~2014年苯丙酮尿症(PKU)的筛查和确诊患儿情况。方法 查阅潍坊市15年来新生儿疾病筛查年报和患儿病历档案,对PKU筛查和确诊患儿情况进行统计分析。结果 潍坊市PKU筛查覆盖率呈逐年上升趋势,2012年达到最高的99.15%;共确诊患儿136例,检出率为1.22/万,以经典型为主,男性居多,农村患儿数多于城市;规范治疗率69.85%,患儿治疗前后的血苯丙氨酸水平差异有统计学意义(P<0.05)。结论 潍坊市PKU筛查推广工作取得了明显成效,但需加强资料统计工作,实施安全有效治疗、规范随访,可较好改善患儿预后。

Retrospective analysis of newborn screening for phenylketonuria in 2000-2014 in Weifang

Objective To investigate the situation of screening and diagnosis of neonatal phenylketonuria(PKU) in 2000-2014 in the city of Weifang. Methods The annual reports of newborn screening and the patient medical records within the fifteen years in Weifang were reviewed, and the situation of neonatal PKU screening and diagnosis was statistically analyzed. Results The PKU screening rate in Weifang was on rise year by year, till the highest rate of 99.15% in 2012. A total of 136 cases of children were diagnosed, with the detection rate of 1.22 per ten thousand and the normalized treatment rate of 69.85%, and in which the majority was male infants with classical PKU from the rural areas. The blood phenylalanine levels of all patients before and after treatment were significantly different(P<0.05). Conclusion The activities of neonatal PKU screening in the city of Weifang has achieved remarkable results, but implementation of the data statistics, safe and effective treatment, and standardized follow-up still needs to strengthen, so as to better improve the prognosis of children.