北京地区先天性肾上腺皮质增生症筛查实验结果的探讨分析
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摘要
目的通过对北京地区新生儿先天性肾上腺皮质增生症筛查结果的分析研究,观察早产儿(孕周<37w)与足月儿(孕周≥37w)、低出生体重(<2500g)与正常体重儿(≥2500g)的17-羟孕酮(17-OHP)的分布状况。方法采集22 632例出生72h后新生儿足跟血滤纸片,采用时间分辨荧光免疫分析法检测17-OHP浓度,采用百分位数法确定分度值。结果早产儿17-OHP浓度分布水平为(16.33±10.48)nmol/L;足月儿17-OHP浓度分布水平为(9.83±4.83)nmol/L。早产儿17-OHP浓度的95%百分位数和99%百分位数分别为33.30 nmol/L和50.65 nmol/L;足月儿17-OHP浓度的95%百分位数和99%百分位数分别为18.80 nmol/L和25.15nmol/L,两组新生儿17-OHP浓度差异有统计学意义(P<0.01)。低出生体重儿17-OHP浓度分布水平为(15.05±11.19)nmol/L;低出生体重儿17-OHP浓度的95%百分位数和99%百分位数分别为33.05nmol/L和57.62 nmol/L;正常体重儿17-OHP浓度分布水平为(9.94±4.98)nmol/L。正常体重儿17-OHP浓度的95%百分位数和99%百分位数分别为19.10 nmol/L和26.20 nmol/L,两组新生儿17-OHP浓度差异有统计学意义(P<0.01)。结论实验结果表明,采用统一17-OHP切值进行新生儿CAH筛查不尽科学,建议早产儿17-OHP切值为50.0nmol/L,正常产新生儿17-OHP切值为25.0 nmol/L,以减少假阳性率和需召回率。
Objective:To study the concentration distribution of 17-OHP in premature infants,term infants,low birth weight infants and normal weight infants through analyzing the screening results of CAH(Congenital adrenal hyperplasia)in Beijing areas. Methods:We used DELFIA method to detect the concentration of 17-OHP in newborn dried blood spots on filter paper collected from 22 632 cases of newborns,and used the percentile method to determine the cut-off value. Results:The concentration distribution level of 17-OHP was(16.33±10.48)nmol/L inpremature infants,and(9.83±4.83)nmol/L interm infants. Percentiles of 95% and 99% 17-OHP concentration in premature infants were 33.30 nmol/L and 50.65 nmol/L,and those in term infants were18.80nmol/L and 25.15nmol/L. There were significant differences between these two groups(P<0.01). The concentration distribution level of 17-OHP was(15.05±11.19)nmol/L in low birth weight infants,and(9.94±4.98)nmol/L innormal birth weight infants. Percentiles of 95% and 99% 17-OHP concentration in low birth weight infants were 33.05 nmol/L and57.62 nmol/L,and those in normal birth weight infants were19.10 nmol/L and 26.20 nmol/L,and there were significant differences between these two groups(P<0.01). Conclusion:The results show that it′s not reasonable toimplement unified cutoff value for 17-OHP in newborn CAH screening. In order to reduce the false positive rate and recall rate,we suggest to implement 50.0 ng/ml as 17-OHP concentration cut-off value in premature infant,and 25.0 ng/ml in term infant.
Objective:To study the concentration distribution of 17-OHP in premature infants,term infants,low birth weight infants and normal weight infants through analyzing the screening results of CAH(Congenital adrenal hyperplasia)in Beijing areas. Methods:We used DELFIA method to detect the concentration of 17-OHP in newborn dried blood spots on filter paper collected from 22 632 cases of newborns,and used the percentile method to determine the cut-off value. Results:The concentration distribution level of 17-OHP was(16.33±10.48)nmol/L inpremature infants,and(9.83±4.83)nmol/L interm infants. Percentiles of 95% and 99% 17-OHP concentration in premature infants were 33.30 nmol/L and 50.65 nmol/L,and those in term infants were18.80nmol/L and 25.15nmol/L. There were significant differences between these two groups(P<0.01). The concentration distribution level of 17-OHP was(15.05±11.19)nmol/L in low birth weight infants,and(9.94±4.98)nmol/L innormal birth weight infants. Percentiles of 95% and 99% 17-OHP concentration in low birth weight infants were 33.05 nmol/L and57.62 nmol/L,and those in normal birth weight infants were19.10 nmol/L and 26.20 nmol/L,and there were significant differences between these two groups(P<0.01). Conclusion:The results show that it′s not reasonable toimplement unified cutoff value for 17-OHP in newborn CAH screening. In order to reduce the false positive rate and recall rate,we suggest to implement 50.0 ng/ml as 17-OHP concentration cut-off value in premature infant,and 25.0 ng/ml in term infant.
引文
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[10]叶立新,陈锦国,钟玉杭,等.不同出生孕周新生儿先天性肾上腺皮质增生症筛查中17-羟孕酮切值初探[J].中国现代药物应用,2015,914:8-10.
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[13]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.
[14]先天性肾上腺皮质增生症新生儿筛查共识[J].中华儿科杂志,2016,54(6):404-408.
[15]胡定波,李国富.不同采血时间新生儿CAH筛查中17-羟孕酮切值的初步研究[J].中国优生与遗传杂志,2016,24(6):79.
[16]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].国际医学导报,2012,18(4):448-452.
[17]Speiser PW,Azziz R,Baskin LS,et al.A summary of the endocrine society clinical practice guidelines on congenital adrenal hyperplasia due to steroid 21-hydroxylase defi ciency[J].Int J Pediatr Endocrinol,2010,494173.
[18]杨洋,周晓玉,周晓光.21-羟化酶缺乏先天性肾上腺皮质增生症52例临床分析[J].中国当代儿科,2015,17(6):613-616.
[2]Newfield RS,New MI.21-hydroxylase def Ic Iency[J].Ann N Y Acad Sci,1997,816:219-229.
[3]Shinagawa T,Horikawa R,Isojima T,et al.Nonclassicsteroid21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatalmass-screening program in Japan[J].Endocr J,2007,54(6):1021-1025.
[4]顾学范.临床遗传代谢病[M].北京:人民卫生出版社,2015.296-303.
[5]Rabbani B,Mahdieh N,Ashtiani MTH,et al.Molecular diagnosis of congenital adrenal hyperplasia in Iran:focusing on CYP21A2gene[J].Iran J Pediatr,2011,21(2):139-150.
[6]田丽萍,卜晓萍.济南地区新生儿先天性肾上腺皮质增生症的筛查分析[J].中国妇幼保健,2012,27(11):1666-1668.
[7]简永建,潘迎.新生儿先天性肾上腺皮质功能增生症筛查诊断实验方法学发展[J].中国儿童保健杂志,2014,22(10):1065-1067.
[8]叶军.先天性肾上腺皮质增生症新生儿筛查[J].中国实用儿科杂志,2016,31(6):422-424.
[9]谢莉,潘莉珍,郑敏,等.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.
[10]叶立新,陈锦国,钟玉杭,等.不同出生孕周新生儿先天性肾上腺皮质增生症筛查中17-羟孕酮切值初探[J].中国现代药物应用,2015,914:8-10.
[11]Gidlof S,Wedell A,Guthenberg C,et al.Nationwide neonatalscreening for congenital adrenal hyperplasia in Sweden a26-Year longitudinal prospective population-based study[J].JAMA Pediatr,2014,168:567-574.
[12]White PC.Optimizing newborn screening for congenital adrenal hyperplasia[J].J Pediatr,2013,163(1):10-12.
[13]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.
[14]先天性肾上腺皮质增生症新生儿筛查共识[J].中华儿科杂志,2016,54(6):404-408.
[15]胡定波,李国富.不同采血时间新生儿CAH筛查中17-羟孕酮切值的初步研究[J].中国优生与遗传杂志,2016,24(6):79.
[16]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].国际医学导报,2012,18(4):448-452.
[17]Speiser PW,Azziz R,Baskin LS,et al.A summary of the endocrine society clinical practice guidelines on congenital adrenal hyperplasia due to steroid 21-hydroxylase defi ciency[J].Int J Pediatr Endocrinol,2010,494173.
[18]杨洋,周晓玉,周晓光.21-羟化酶缺乏先天性肾上腺皮质增生症52例临床分析[J].中国当代儿科,2015,17(6):613-616.