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目的总结和分析盐城市2012—2014年新生儿苯丙酮尿症(PKU)、先天性甲状腺功能减低症(CH)和先天性肾上腺皮质增生症(CAH)疾病筛查情况,并对3种疾病的发病率进行探讨。方法对盐城市2012—2014年所有参与新生儿遗传代谢病筛查的对象在出生72 h后,7 d之内,充分哺乳,由医务人员采集足跟血,检测样品中苯丙氨酸(Phe)、促甲状腺素(TSH)、17α-羟孕酮(17α-OHP)的浓度,对可疑结果进行确诊检查。结果 2012—2014年盐城市共筛查新生儿199 612例,共检出苯丙酮尿症(PKU)24例,发病率为1∶8317(%),先天性甲状腺功能减低症(CH)121例,发病率为1∶1650(%),先天性肾上腺皮质增生症(CAH)9例,发病率为1∶22 179(%)。结论盐城市PKU发病率稍微高于全国平均水平,CH发病率明显高于全国平均水平,CAH发病率则稍微低于全国平均水平(1∶10 000~1∶20 000)。通过新生儿遗传代谢病筛查,使患儿得到早期的诊断和治疗,从而提高我国人口素质,减少残疾儿童的发生。
Objective To summarize and analyze the screening of newborns with phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) in Yancheng from 2012 to 2014, The incidence is discussed. Methods All subjects involved in neonatal genetic metabolic disease screening in Yancheng from 2012 to 2014 were adequately breast-fed within 72 hours and within 7 days after birth, and heel blood was collected by medical staff. Phenylalanine (Phe) ), Thyrotropin (TSH), 17α-hydroxyprogesterone (17α-OHP) concentrations, the suspicious results were confirmed. Results A total of 199 612 newborn infants were detected in Yancheng City during 2012-2014. A total of 24 PKU cases were detected, with a prevalence of 1:8317% and 121 cases of congenital hypothyroidism (CH) , The incidence of 1:1650 (%), congenital adrenal hyperplasia (CAH) in 9 cases, the incidence was 1:22 179 (%). Conclusion The incidence of PKU in Yancheng is slightly higher than the national average. The incidence of CH is significantly higher than the national average, and the incidence of CAH is slightly lower than the national average (1:10 000 ~ 1:20 000). Through neonatal genetic metabolic disease screening, so that children get early diagnosis and treatment, thereby improving our population quality, reduce the incidence of children with disabilities.