新疆南疆地区近5年691700例新生儿疾病筛查结果分析
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摘要
目的分析新疆南疆地区2012-2016年度691 700例新生儿苯丙酮尿症(phenylketonuria,PKU)和先天性甲状腺功能减低症(congenital hypothyroidism,CH)的筛查结果,了解新疆南疆5地州44县市近5年度新生儿2项疾病的检出情况。方法采集新生儿足跟血于专用滤纸,分别采用化学荧光法和时间分辨荧光免疫法检测干滤纸血片中苯丙氨酸(Phe)、促甲状腺素(TSH)浓度。结果新疆南疆地区5地州44县市近5年691 700例新生儿经筛查确诊苯丙酮尿症98例,检出率为0.142‰;先天性甲状腺功能减低症90例,检出率为0.130‰。结论 2012-2016年度新疆南疆地区新生儿苯丙酮尿症检出率高于全国平均水平,先天性甲状腺功能减低症检出率低于全国平均水平;提高新疆偏远地区新生儿疾病筛查率对于患儿早期诊治,以及提高出生人口素质具有重要意义。
Objective For phenylketonuria and congenital hypothyroidism screening of 691 700 neonates in south region of Xinjiang,and to discuss the detection rate in 2012-2016. Methods In the special filter paper collecting heel blood of newborn. Fluorometric determination and time-resolved fluorometric determination to tested concentration in dry blood filter paper of Phenylalanine and congenital hypothyroidism. Results There are98 patients( detection rate was 0. 142‰) with phenylketonuria and 90 patients( detection rate was 0. 130‰)with congenital hypothyroidism of 691 700 neonatal screening in south region of Xinjiang in these five years.Conclusion Understanding the detection rate of neonatal PKU in south region of Xinjiang were higher than the national average,the detection rate of neonatal CH in south region of Xinjiang were lower than national average,and there is an important significance in this area.
Objective For phenylketonuria and congenital hypothyroidism screening of 691 700 neonates in south region of Xinjiang,and to discuss the detection rate in 2012-2016. Methods In the special filter paper collecting heel blood of newborn. Fluorometric determination and time-resolved fluorometric determination to tested concentration in dry blood filter paper of Phenylalanine and congenital hypothyroidism. Results There are98 patients( detection rate was 0. 142‰) with phenylketonuria and 90 patients( detection rate was 0. 130‰)with congenital hypothyroidism of 691 700 neonatal screening in south region of Xinjiang in these five years.Conclusion Understanding the detection rate of neonatal PKU in south region of Xinjiang were higher than the national average,the detection rate of neonatal CH in south region of Xinjiang were lower than national average,and there is an important significance in this area.
引文
[1]王慧琴,补娟,吴卫东.192633例新疆南疆地区新生儿疾病筛查结果分析[J].中国优生与遗传杂志,2016.8.25,24(08):77-78.
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[9]章晓燕,王薇,赵海建,等.我国2015年新生儿遗传代谢病筛查指标切值的调查[J].临床检验杂志,2016,34(9):706-709.
[10]古扎丽努尔·阿不力孜,路玲,米日古丽·艾乃土,等.南疆维吾尔族妇女宫颈癌与种族遗传易感性的关系研究[J].中国肿瘤临床,2008,35(11):629-632.
[11]王慧琴,朱娟娟,吴卫东.2014年新疆南疆地区新生儿疾病筛查结果分析[J].中国优生与遗传杂志,2015,23(10):88-89.
[12]王昌敏,王慧琴,张慧.新疆南疆地区2009-2013年新生儿疾病筛查结果分析[J].实用预防医学,2015,22(1):72-74.
[2]费阳,王薇,赵海建等.我国新生儿遗传代谢病筛查质量指标[J].中华检验医学杂志,2016,39(7):556-558.
[3]胡亚美,江载芳.诸福棠实用儿科学[M].北京:人民卫生出版社,2002:432-433.
[4]蒋海丽,苏雅洁,阿仙,等.新疆南部地区基层新生儿疾病筛查影响因素分析[J].中国妇幼健康研究,2017,28(2):160-163.
[5]张凤玲.苯丙酮尿症的新生儿筛查和治疗[J].中外女性健康研究,2016,(1):221,234.
[6]顾学范,王志国.中国580万新生儿苯丙酮尿症和甲状腺功能减低症的筛查[J].中华预防医学杂志,2004,38(2):99-102.
[7]杨树法,赵娟,王琳琳.苯丙氨酸羟化酶基因突变研究进展[J].检验医学与临床,2012.5,9(9):1097-1099.
[8]李华锋,张力,李永丽,等.苯丙氨酸羟化酶基因突变的研究进展[J].山东医学高等专科学校学报,2016,38(1):75-78.
[9]章晓燕,王薇,赵海建,等.我国2015年新生儿遗传代谢病筛查指标切值的调查[J].临床检验杂志,2016,34(9):706-709.
[10]古扎丽努尔·阿不力孜,路玲,米日古丽·艾乃土,等.南疆维吾尔族妇女宫颈癌与种族遗传易感性的关系研究[J].中国肿瘤临床,2008,35(11):629-632.
[11]王慧琴,朱娟娟,吴卫东.2014年新疆南疆地区新生儿疾病筛查结果分析[J].中国优生与遗传杂志,2015,23(10):88-89.
[12]王昌敏,王慧琴,张慧.新疆南疆地区2009-2013年新生儿疾病筛查结果分析[J].实用预防医学,2015,22(1):72-74.