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目的研究徐州地区新生儿疾病苯丙酮尿症(PKU)的发生、分布及治疗情况。方法采用干血滤纸片法,对出生72h的新生儿采集足跟血,用荧光法检测血苯丙氨酸浓度,并对确诊患儿做临床流行病学分析。结果 PKU发病率为1:7934,流行病学调查未见近亲结婚和遗传家族史,母孕期正常。结论 PKU在徐州地区散在发生和分布;进行新生儿筛查,使得患儿得到早期诊治,是提高本地区人口素质的重要措施。
Objective To study the occurrence, distribution and treatment of phenylketonuria (PKU) in neonatal diseases in Xuzhou area. Methods Dry blood filter paper was used to collect heel blood of newborn infants 72h after birth. Fluorescence was used to detect the concentration of blood plasma phenylalanine. The clinical epidemiological analysis was performed on the confirmed children. Results The incidence of PKU was 1: 7934. There was no epidemiological investigation of inbreeding and family history of heroin and normal pregnancy. Conclusions The PKU is scattered and distributed in Xuzhou area. The screening of newborns makes the early diagnosis and treatment of infants an important measure to improve the population quality in this area.