宁波地区新生儿17-羟孕酮筛查的结果分析
|
摘要
目的通过对新生儿17-羟孕酮(17-OHP)水平的检测,了解宁波地区先天性肾上腺皮质增生症(congenital adrenalhyperplasia,CAH)的发病率及出生体重、胎龄等因素与17-羟孕酮(17-OHP)之间的相关性。方法采用时间分辨荧光免疫分析法对2014年1月-12月宁波地区分娩的新生儿的干血滤纸片标本进行17-OHP检测,高于临界值者进行召回复查和召回确诊。结果共收集88 406例新生儿,筛查总阳性率为0.59%(517/88 406);最终确诊CAH发病率为0.003%(3/88 406)。确诊的CAH病例中,3例均为失盐型。孕周与17-OHP呈负相关(r=-0.28,P<0.05),出生体重与17-OHP呈负相关(r=-0.19,P<0.05)。结论宁波地区的CAH发病率明显低于全国水平。建议根据不同孕周体重分组,采用不同临界值来提高筛查效率。
Objective Through the detection of neonatal 17-hydroxyprogesterone( 17-OHP) level,to study the correlation of17-OHP with the incidence rate of congenital adrenal hyperplasia( CAH),birth weight,gestational age and other factors.Methods 17-OHP detection of dry blood filter paper samples of newborn infants in Ningbo area was performed by time resolved fluorescence immunoassay during January-December in 2014. If the value was higher than the cut-off value,recalling would be done for further check and diagnosis. Results A total of 88 406 neonates were collected. The screening positive rate was 0. 59%( 517/88 406). The final diagnosis rate was 0. 003%( 3/88 406). 3 cases were salt-wasting type among the diagnosed CAH cases. Gestational age was negatively correlated with 17-OHP( r =-0. 28,P < 0. 05),and birth weight was negatively correlated with 17-OHP( r =-0. 19,P < 0. 05). Conclusion The incidence rate of CAH in Ningbo area is significantly lower than that of the whole country. It is suggested to use different values in 17-OHP screening according to different gestational weeks and weights.
Objective Through the detection of neonatal 17-hydroxyprogesterone( 17-OHP) level,to study the correlation of17-OHP with the incidence rate of congenital adrenal hyperplasia( CAH),birth weight,gestational age and other factors.Methods 17-OHP detection of dry blood filter paper samples of newborn infants in Ningbo area was performed by time resolved fluorescence immunoassay during January-December in 2014. If the value was higher than the cut-off value,recalling would be done for further check and diagnosis. Results A total of 88 406 neonates were collected. The screening positive rate was 0. 59%( 517/88 406). The final diagnosis rate was 0. 003%( 3/88 406). 3 cases were salt-wasting type among the diagnosed CAH cases. Gestational age was negatively correlated with 17-OHP( r =-0. 28,P < 0. 05),and birth weight was negatively correlated with 17-OHP( r =-0. 19,P < 0. 05). Conclusion The incidence rate of CAH in Ningbo area is significantly lower than that of the whole country. It is suggested to use different values in 17-OHP screening according to different gestational weeks and weights.
引文
[1]梁雁,罗小平.儿童内分泌系统疾病研究进展[J].中国实用儿科杂志,2013,28(5):324-327.
[2]Therrell BL Jr,Berenbaum SA,Manter-Kapanke V,et al.Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia[J].Pediatrics,1998,101:583-590.
[3]田国力,朱伟明,王燕敏,等.新生儿先天性肾上腺皮质增生症筛查的初步报告[J].检验医学,2010,25(2):86-88.
[4]张瑾,孙亦骏,黄美莲,等.南京市新生儿PKU、CH及CAH筛查结果分析[J].南京医科大学学报,2004,24(1):92-93.
[5]Buyukkayhan D,Ozturk MA,Kurtoglu S,et al.Effect of antenatal betamenthasone use on adrenal gland size and endogenous cortisol and 17-hydroxyprogesterone in preterm neonates[J].Pediatr Endocrinol Metab,2009,22(11):1027-1031.
[6]Chennuri VS,Mithbawkar SM,Mokai RA,et al.Serum 17 alpha hydroxyprogesterone in normal full term and preterm vs.sick preterm and full term newborns in a tertiary hospital[J].Indian J Pediatr,2013,80:21-25.
[7]Centers for Disease Control and Prevention(CDC)and the Association of Public Health Labordtories.Newborn screening quality assurance program[R].A flanta:2008 Annual Summary Report,2009.
[8]文伟,郭萌,张琦,等.新生儿先天性肾上腺皮质增生症筛查及不同胎龄体重新生儿血17-羟孕酮变化[J].中国实用儿科杂志,2014,29(1):39-42.
[9]罗超,范歆,俸诗瀚,等.广西地区新生儿先天性肾上腺皮质增生症筛查切值的建立[J].中国优生与遗传杂志,2013,21(10):74-75.
[10]Hayashi G,Faure C,Brondi MF,et al.Weight-adjusted neonatal17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia[J].Arq Bras Endocrinol Metabol,2011,55:632-637.
[11]Van der Kamp HJ,Oudshoorn CG,Elvers BH,et al.Cut-off levels of 17-alpha-hydroxyprogsterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight[J].J Clin Endocrinol Metab,2005,90(7):3904-3907.
[12]Olgemoller B,Roscher AA,Liebl B,et al.Screening for congenital adrenal hyperplasia:adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value[J].J Clin Endocrinol Metab,2003,88(12):5790-5794.
[13]毛维玉,郭辉,闵娟,等.早产新生儿体重对CAH筛查中17-羟孕酮结果的影响分析[J].国际医药卫生导报,2008,14:11-14.
[14]谢莉,潘莉珍,郑敏.新生儿先天性肾上腺皮质增生症筛查分析[J].中国新生儿科杂志,2013,28(6):375-378.
[15]万志丹,黄湘,张翠梅,等.新生儿先天性肾上腺皮质增生症筛查中17羟孕酮切值的建立[J].国际医药卫生导报,2012,18(4):448-452.
[2]Therrell BL Jr,Berenbaum SA,Manter-Kapanke V,et al.Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia[J].Pediatrics,1998,101:583-590.
[3]田国力,朱伟明,王燕敏,等.新生儿先天性肾上腺皮质增生症筛查的初步报告[J].检验医学,2010,25(2):86-88.
[4]张瑾,孙亦骏,黄美莲,等.南京市新生儿PKU、CH及CAH筛查结果分析[J].南京医科大学学报,2004,24(1):92-93.
[5]Buyukkayhan D,Ozturk MA,Kurtoglu S,et al.Effect of antenatal betamenthasone use on adrenal gland size and endogenous cortisol and 17-hydroxyprogesterone in preterm neonates[J].Pediatr Endocrinol Metab,2009,22(11):1027-1031.
[6]Chennuri VS,Mithbawkar SM,Mokai RA,et al.Serum 17 alpha hydroxyprogesterone in normal full term and preterm vs.sick preterm and full term newborns in a tertiary hospital[J].Indian J Pediatr,2013,80:21-25.
[7]Centers for Disease Control and Prevention(CDC)and the Association of Public Health Labordtories.Newborn screening quality assurance program[R].A flanta:2008 Annual Summary Report,2009.
[8]文伟,郭萌,张琦,等.新生儿先天性肾上腺皮质增生症筛查及不同胎龄体重新生儿血17-羟孕酮变化[J].中国实用儿科杂志,2014,29(1):39-42.
[9]罗超,范歆,俸诗瀚,等.广西地区新生儿先天性肾上腺皮质增生症筛查切值的建立[J].中国优生与遗传杂志,2013,21(10):74-75.
[10]Hayashi G,Faure C,Brondi MF,et al.Weight-adjusted neonatal17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia[J].Arq Bras Endocrinol Metabol,2011,55:632-637.
[11]Van der Kamp HJ,Oudshoorn CG,Elvers BH,et al.Cut-off levels of 17-alpha-hydroxyprogsterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight[J].J Clin Endocrinol Metab,2005,90(7):3904-3907.
[12]Olgemoller B,Roscher AA,Liebl B,et al.Screening for congenital adrenal hyperplasia:adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value[J].J Clin Endocrinol Metab,2003,88(12):5790-5794.
[13]毛维玉,郭辉,闵娟,等.早产新生儿体重对CAH筛查中17-羟孕酮结果的影响分析[J].国际医药卫生导报,2008,14:11-14.
[14]谢莉,潘莉珍,郑敏.新生儿先天性肾上腺皮质增生症筛查分析[J].中国新生儿科杂志,2013,28(6):375-378.
[15]万志丹,黄湘,张翠梅,等.新生儿先天性肾上腺皮质增生症筛查中17羟孕酮切值的建立[J].国际医药卫生导报,2012,18(4):448-452.