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目的了解武汉市及周边地区新生儿先天性甲状腺功能低下(CH)和苯丙酮尿症(PKU)的筛查及治疗情况。方法采用时间分辨免疫分析法和荧光法进行检测。结果 2008年~2010年共筛查231 069份标本,检出CH患儿75例,PKU患儿9例,CH和PKU患者经治疗后智力明显提高,各项指标恢复正常。结论新生儿疾病筛查是早发现,早诊断,早治疗,是提高人口素质的一种有效的方法。
Objective To investigate the screening and treatment of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) in Wuhan and its surrounding areas. Methods Time-resolved immunoassay and fluorescence method were used for detection. Results A total of 231 069 specimens were screened from 2008 to 2010, including 75 children with CH and 9 children with PKU. The CH and PKU patients’ IQ increased significantly after treatment, and the indexes returned to normal. Conclusion Neonatal disease screening is an early detection, early diagnosis and early treatment, which is an effective way to improve the population quality.