奉化区2011年-2017年51340例新生儿三病筛查结果分析
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摘要
目的分析分析奉化区51 340例新生儿的苯丙酮尿症(Phenylketonuria,PKU)、先天性甲减(congenital hypothyroidism,CH)、葡萄糖6磷酸脱氢酶缺陷(glucose 6 phosphate dehydrogenase deficiency,G6PD)的发病情况,为新生儿的筛查工作提供借鉴参考。方法选取2011年-2017年于我院分娩的51 340位新生儿为筛查对象,使用荧光分析法等分析其血样中苯丙氨酸、促甲状腺素水平以及葡萄糖6磷酸脱氢酶的活性,分析PKU、CH、G6PD的发病情况。结果2011年-2017年新生儿的筛查率从20.29%上升到52.92%。2011年-2017年共查出18位PKU、34位CH阳性以及589位G6PD患儿,PKU、CH、G6PD的平均发病率分别为0.035%、0.066%、1.15%。所有患儿随访结果良好。结论新生儿的早期筛查有利于避免先天性疾病带来的长期不利影响,及早干预以促进患儿的预后。
Objective:To analyze the incidence of Phenylketonuria(PKU),congenital hypothyroidism(CH)and glucose6 phosphate dehydrogenase deficiency(G6 PD)in 51 340 neonates in Fenghua District. To provide reference for the screening of newborns. Methods:A total of 51 340 newborns born in our hospital from 2011 to 2017 were selected as screening subjects.Fluorescence analysis was used to analyze the activities of phenylalanine,thyrotropin and glucose 6-phosphate dehydrogenase in blood samples. The incidence of PKU,CH,G6 PD were analyzed. Results:The screening rate of newborns from 2011 to2017 increased from 20.29% to 52.92%. From 2011 to 2017,a total of 18 PKUs,34 CH positives,and 589 G6 PD children were identified. The average incidence rates of PKU,CH,and G6 PD were 0.035%,0.066%,and 1.15%,respectively. All children had good follow-up results. Conclusion:Early screening of newborns is beneficial to avoid the long-term adverse effects of congenital diseases and early intervention to promote the prognosis of children.
Objective:To analyze the incidence of Phenylketonuria(PKU),congenital hypothyroidism(CH)and glucose6 phosphate dehydrogenase deficiency(G6 PD)in 51 340 neonates in Fenghua District. To provide reference for the screening of newborns. Methods:A total of 51 340 newborns born in our hospital from 2011 to 2017 were selected as screening subjects.Fluorescence analysis was used to analyze the activities of phenylalanine,thyrotropin and glucose 6-phosphate dehydrogenase in blood samples. The incidence of PKU,CH,G6 PD were analyzed. Results:The screening rate of newborns from 2011 to2017 increased from 20.29% to 52.92%. From 2011 to 2017,a total of 18 PKUs,34 CH positives,and 589 G6 PD children were identified. The average incidence rates of PKU,CH,and G6 PD were 0.035%,0.066%,and 1.15%,respectively. All children had good follow-up results. Conclusion:Early screening of newborns is beneficial to avoid the long-term adverse effects of congenital diseases and early intervention to promote the prognosis of children.
引文
[1]尚世强,杨建滨.新生儿疾病筛查和诊断的发展及存在的问题与思考[J].中华检验医学杂志,2015,38(4):217-219.
[2]邹卉.新生儿遗传代谢病筛查诊治模式建立及筛查疾病基因研究[D].山东大学,2016.
[3]杨小艳,李瑞玲,张梅,等. 2008-2013年西安市新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查与治疗情况分析[J].中国儿童保健杂志,2015,23(4):427-430.
[4]叶军.新生儿遗传代谢病筛查发展及诊治规范[J].中国计划生育和妇产科,2016,3(1):6-13.
[5]胡琦,欧明才,张钰,等.四川省新生儿筛查中心新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查结果分析[J].四川医学,2013,34(11):1726-1728.
[6]Zhong K,et al. The status of neonatal screening in China,2013[J].Journal of Medical Screening,2016,23(2):59-61.
[7]Lin M,Song P,Kokudo N,et al. Current situation and prospects of newborn screening and treatment for Phenylketonuria in China—compared with the current situation in the United States,UK and Japan[J].Intractable Rare Dis Res,2013,2(4):106-114.
[8]顾学范.中国580万新生儿苯丙酮尿症和先天性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.
[9]柳玮,等. 490 464例新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查结果分析[J].中国妇幼保健,2016,31(6):1205-1206.
[10]何瑛. 638 171例新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查结果分析[J].实用临床医药杂志,2015,19(5):81-84.
[11] Mechtler TP,et al. Neonatal screening for lysosomal storage disorders:feasibility and incidence from a nationwide study in Austria[J].Lancet,2012,379(9813):335-341.
[12]刘文煌. 2007~2016年漳州地区新生儿苯丙酮尿症筛查情况分析[J].中国优生与遗传杂志,2017,24(3):83-85.
[13]欧明才,张钰,胡琦,等. 2000-2009年四川省新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查情况分析[J].中国儿童保健杂志,2013,21(10):1092-1095.
[14]刘一心,黄晓春,陈斌,等. 1998-2004年深圳市新生儿疾病筛查的分析及随访[J].中国病毒病杂志,2005,7(4):296-298.
[15]江剑辉,李蓓,曹伟锋,等.广州市18年新生儿先天性甲低苯丙酮尿症和葡萄糖-6-磷酸脱氢酶缺乏症筛查[J].中华新生儿科杂志,2008,23(2):85-87.
[16]黄晓春,伍小秋,黄荣彬,等.深圳市1998—2008年新生儿疾病筛查结果分析[J].中华新生儿科杂志,2009,24(4):220-222.
[17]徐艳华.中国新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查22年回顾[J].中华儿科杂志,2009,47(1):18-22.
[18]楼赛娟,陈怡博,庄丹燕,等.宁波市2007-2011年新生儿疾病筛查结果分析[J].上海预防医学,2013,25(3):137-138.
[2]邹卉.新生儿遗传代谢病筛查诊治模式建立及筛查疾病基因研究[D].山东大学,2016.
[3]杨小艳,李瑞玲,张梅,等. 2008-2013年西安市新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查与治疗情况分析[J].中国儿童保健杂志,2015,23(4):427-430.
[4]叶军.新生儿遗传代谢病筛查发展及诊治规范[J].中国计划生育和妇产科,2016,3(1):6-13.
[5]胡琦,欧明才,张钰,等.四川省新生儿筛查中心新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查结果分析[J].四川医学,2013,34(11):1726-1728.
[6]Zhong K,et al. The status of neonatal screening in China,2013[J].Journal of Medical Screening,2016,23(2):59-61.
[7]Lin M,Song P,Kokudo N,et al. Current situation and prospects of newborn screening and treatment for Phenylketonuria in China—compared with the current situation in the United States,UK and Japan[J].Intractable Rare Dis Res,2013,2(4):106-114.
[8]顾学范.中国580万新生儿苯丙酮尿症和先天性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.
[9]柳玮,等. 490 464例新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查结果分析[J].中国妇幼保健,2016,31(6):1205-1206.
[10]何瑛. 638 171例新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查结果分析[J].实用临床医药杂志,2015,19(5):81-84.
[11] Mechtler TP,et al. Neonatal screening for lysosomal storage disorders:feasibility and incidence from a nationwide study in Austria[J].Lancet,2012,379(9813):335-341.
[12]刘文煌. 2007~2016年漳州地区新生儿苯丙酮尿症筛查情况分析[J].中国优生与遗传杂志,2017,24(3):83-85.
[13]欧明才,张钰,胡琦,等. 2000-2009年四川省新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查情况分析[J].中国儿童保健杂志,2013,21(10):1092-1095.
[14]刘一心,黄晓春,陈斌,等. 1998-2004年深圳市新生儿疾病筛查的分析及随访[J].中国病毒病杂志,2005,7(4):296-298.
[15]江剑辉,李蓓,曹伟锋,等.广州市18年新生儿先天性甲低苯丙酮尿症和葡萄糖-6-磷酸脱氢酶缺乏症筛查[J].中华新生儿科杂志,2008,23(2):85-87.
[16]黄晓春,伍小秋,黄荣彬,等.深圳市1998—2008年新生儿疾病筛查结果分析[J].中华新生儿科杂志,2009,24(4):220-222.
[17]徐艳华.中国新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查22年回顾[J].中华儿科杂志,2009,47(1):18-22.
[18]楼赛娟,陈怡博,庄丹燕,等.宁波市2007-2011年新生儿疾病筛查结果分析[J].上海预防医学,2013,25(3):137-138.