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目的:了解连云港地区苯丙酮尿症(PKU)发病情况及临床类型。方法:于2000年9月~2007年6月按规范采集新生儿足跟血,采用细菌抑制法(B IA)和荧光定量法筛查PKU。结果:250 051例新生儿,确诊PKU患儿31例,发病率12.39/10万(1/8 066);男女比例1∶0.41;荧光法和B IA法检测阳性率分别为1∶5 604、1∶9 239,两种方法比较无显著性差异。结论:提高新生儿疾病筛查覆盖率是发现新生儿疾病的唯一手段,荧光法筛查PKU是值得推荐的方法。
Objective: To understand the incidence and clinical types of phenylketonuria (PKU) in Lianyungang area. Methods: Neonatal heel blood samples were collected from September 2000 to June 2007 according to the norm. Bacterial inhibition (BIA) and fluorescent quantitation were used to screen PKU. Results: There were 250,051 newborns and 31 confirmed cases of PKU with a prevalence of 12.39 / 100000 (1/8 066). The ratio of male to female was 1: 0.41. The positive rates of fluorescence and BIA were 1: 60460, 1:9 239, no significant difference between the two methods. Conclusion: Increasing neonatal screening coverage is the only way to detect neonatal diseases. Fluorescent screening of PKU is a recommended method.