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目的分析新疆地区2011年新生儿苯丙酮尿症(phenylketonuria,PKU)和先天性甲状腺功能减低症(congenital hypothyroidism,CH)筛查结果,了解新疆地区新生儿疾病筛查整体情况。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。结果新疆地区74 407例新生儿经筛查确诊苯丙酮尿症25例,检出率为0.336‰;先天性甲状腺功能减低症28例,检出率为0.376‰。结论掌握了新疆地区2011年苯丙酮尿症和先天性甲状腺功能减低症的总体情况;在新疆地区进行新生儿疾病筛查对于患儿早期诊治具有重要意义。
Objective To analyze the screening results of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Xinjiang in 2011 to understand the overall situation of neonatal screening in Xinjiang. 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 74 407 newborn infants diagnosed with phenylketonuria in Xinjiang were diagnosed in 25 cases with a detection rate of 0.336 ‰. Congenital hypothyroidism was diagnosed in 28 cases and the detection rate was 0.376 ‰. Conclusions The overall situation of phenylketonuria and congenital hypothyroidism in Xinjiang in 2011 was mastered. Screening for neonatal diseases in Xinjiang is of great significance for the early diagnosis and treatment of children.