论文部分内容阅读
目的:探讨新疆地区苯丙酮尿症(PKU)的筛查、诊断、治疗以及民族和地区分布特点。方法:PKU新生儿筛查采用荧光分析法,诊断参照国际标准方法进行。治疗采用低苯丙氨酸饮食疗法。结果:通过新生儿筛查和全疆范围的走访调查,发现并确诊PKU患者44例,这些病人年龄跨度较大,失查、失治严重。他们分布于新疆15个地(州)、市,包括4个民族,有一定的民族和地区分布特性。结论:本项目基本掌握了新疆PKU的发病及分布特点,积累了治疗经验,为该地区今后制定防治战略提供了科学依据。
Objective: To investigate the screening, diagnosis and treatment of phenylketonuria (PKU) in Xinjiang and the characteristics of ethnic and regional distribution. Methods: PKU neonatal screening using fluorescence analysis, diagnosis with reference to international standards. Treatment with low phenylalanine diet therapy. Results: Through the neonatal screening and survey in Xinjiang, 44 patients were found and confirmed PKU patients. These patients had a large age span, lost check-ups and lost their health. They are distributed in 15 prefectures (prefectures) and cities in Xinjiang, including 4 ethnic groups, with certain ethnic and regional distributional characteristics. Conclusion: The project basically grasps the onset and distribution of PKU in Xinjiang and accumulates experience of treatment, which provides a scientific basis for the future prevention and treatment strategy in this area.