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目的分析新疆南疆地区2009-2013年新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查情况,探讨新疆南疆地区近五年新生儿两种疾病的发病情况。方法分别采用化学荧光法和时间分辨荧光免疫法检测干滤纸血片中苯丙氨酸(Phe)、促甲状腺素(TSH)浓度。结果新疆南疆地区154 548例新生儿经筛查确诊苯丙酮尿症64例,发病率为0.414‰;先天性甲状腺功能减低症28例,发病率为0.181‰。结论新疆南疆地区新生儿苯丙酮尿症的发病率明显高于全国水平;先天性甲状腺功能减低症的发病率则较低;新疆南疆地区进行新生儿疾病筛查对于患儿早期诊治,提高出生人口素质具有重要的社会意义。
Objective To analyze the screening status of neonatal phenylketonuria and congenital hypothyroidism from 2009 to 2013 in southern Xinjiang in Xinjiang Uygur Autonomous Region and investigate the incidence of neonatal diseases in southern Xinjiang in recent five years. Methods The concentrations of phenylalanine (Phe) and thyrotropin (TSH) in dried filter paper were determined by chemical and time-resolved fluorescence immunoassay. Results A total of 54 548 newborns in southern Xinjiang were confirmed 64 cases of phenylketonuria by screening. The incidence rate was 0.414 ‰. The incidence of congenital hypothyroidism was 28 cases, the incidence rate was 0.181 ‰. Conclusions The incidence of neonatal phenylketonuria in southern Xinjiang is significantly higher than that of the whole country. The incidence of congenital hypothyroidism is low. Screening of neonatal diseases in southern Xinjiang is of great value in the early diagnosis and treatment of children The quality of the born population has important social significance.