论文部分内容阅读
目的探讨新疆地区新生儿苯丙酮尿症(pheny1ketonuria,PKU)的发病情况,以便做到早确诊、早治疗。方法用荧光法检测滤纸干血斑苯丙氨酸浓度。根据血苯丙氨酸浓度确诊PKU,确诊患儿给予低苯丙氨酸饮食治疗,定期查患儿血苯丙氨酸浓度,并对患儿治疗跟踪随访。结果自2003年1月至2010年10月共筛查40 216例新生儿,确诊17例,检出率为1/2366,明显高于全国平均水平。结论新生儿苯丙酮尿症的筛查和治疗,是减少出生缺陷,提高人口素质的重要措施。
Objective To investigate the incidence of neonatal phenylketonuria (PKU) in Xinjiang in order to achieve early diagnosis and early treatment. Methods Fluorescence method was used to detect the phenylalanine concentration of dried blood spots on filter paper. According to the blood phenylalanine concentration confirmed PKU, diagnosed with hypo-phenylalanine diet, children with regular screening of blood phenylalanine concentration, and follow-up treatment of children with follow-up. Results A total of 40,216 newborns were screened from January 2003 to October 2010, and 17 cases were diagnosed. The detection rate was 1/2366, which was significantly higher than the national average. Conclusion Neonatal screening and treatment of phenylketonuria is an important measure to reduce birth defects and improve the quality of the population.