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目的:分析2009~2013年郑州市新生儿苯丙酮尿症(PKU)和先天性甲状腺功能减低症(CH)的发病情况,为早期诊疗提供保障。方法:采用ELISA法检测35 569名新生儿足跟血中的促甲状腺素(TSH)水平,采用荧光法测定干血片中苯丙氨酸(Phe)水平。结果:2009~2013年筛查的35 569名新生儿中,确诊14例PKU患儿,发病率为1/2 541,男5例、女9例,男女比例为1∶1.8;确诊115例CH患儿,发病率为1/309,男46例、女69例,男女比例为1∶1.5。结论:早期进行新生儿PKU和CH筛查可及时预防和诊治新生儿智力低下,提高我国的综合人口素质。
Objective: To analyze the incidence of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Zhengzhou from 2009 to 2013, to provide protection for early diagnosis and treatment. Methods: Thyrotropin (TSH) levels in heel blood of 35 569 neonates were detected by ELISA. The levels of phenylalanine (Phe) in dried blood tablets were measured by fluorescence spectrophotometry. Results: Out of 35 569 newborns screened from 2009 to 2013, 14 cases of PKU were diagnosed with the incidence of 1/2 541, 5 males and 9 females, the ratio of male to female was 1: 1.8. Among the 115 cases diagnosed as CH Children, the incidence rate of 1/309, 46 males and 69 females, male to female ratio of 1: 1.5. Conclusion: Early neonatal PKU and CH screening can prevent and diagnose neonatal mental retardation in time, and improve our comprehensive population quality.