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目的:通过对中国北方苯丙氨酸羟化酶(PAH)缺乏症患儿确诊时血苯丙氨酸(Phe)值的分析,探讨PAH缺乏症患儿机体外因素对确诊时血Phe值的影响。方法:采用回顾性调查的形式收集2012年6月~2013年12月北方7省20家医院确诊的PAH缺乏症患儿的临床及流行病学调查资料,对城乡患儿确诊时的血Phe值及机体外因素进行分析。结果:农村PAH缺乏症患儿确诊时血Phe值高于城市患儿(Z=-2.95,P=0.00);农村PAH缺乏症患儿的确诊时间晚于城市患儿(Z=-3.69,P=0.00)。结论:提高孕产妇及其家属关于高苯丙氨酸血症(HPA)的预防保健知识,是避免患儿出生或尽早确诊的有效措施。
OBJECTIVE: To analyze the value of Phe in children with PAH deficiency in northern China and explore the relationship between the extra-corporal factors and the blood Phe in the diagnosis of PAH deficiency influences. Methods: The clinical and epidemiological data of PAH deficiency diagnosed in 20 hospitals in 7 provinces in the north of China from June 2012 to December 2013 were collected retrospectively. The Phe value And external factors to analyze. Results: The blood Phe level of children with PAH deficiency in rural areas was higher than that of urban children (Z = -2.95, P = 0.00). The diagnosis time of children with PAH deficiency in rural areas was later than that of urban children (Z = -3.69, P = 0.00). CONCLUSIONS: Improving maternal and their families’ knowledge of preventive health care for hyperphenylalaninemia (HPA) is an effective measure to prevent the birth or early diagnosis of a child.