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新生儿期葡萄糖-6-磷酸脱氢酶缺乏症定量和定性检测的比较

Comparison of quantitative and qualitative tests for glucose-6-phosphate dehydrogenase deficiency in the neonatal period.

作者信息

Keihanian F, Basirjafari S, Darbandi B, Saeidinia A, Jafroodi M, Sharafi R, Shakiba M

机构信息

Guilan University of Medical Sciences, Rasht, Iran.

Cardiology Department & Pharmaceutical Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Int J Lab Hematol. 2017 Jun;39(3):251-260. doi: 10.1111/ijlh.12618. Epub 2017 Mar 4.

DOI:10.1111/ijlh.12618
PMID:28258653
Abstract

INTRODUCTION

Considering the high prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among newborns, different screening methods have been established in various countries. In this study, we aimed to assess the prevalence of G6PD deficiency among newborns in Rasht, Iran, and compare G6PD activity in cord blood samples, using quantitative and qualitative tests.

METHODS

This cross-sectional, prospective study was performed at five largest hospitals in Rasht, Guilan Province, Iran. The screening tests were performed for all the newborns, referred to these hospitals. Specimens were characterized in terms of G6PD activity under ultraviolet light, using the kinetic method and the qualitative fluorescent spot test (FST). We also determined the sensitivity, specificity, negative predictive value, and positive predictive value of the qualitative assay.

RESULTS

Blood samples were collected from 1474 newborns. Overall, 757 (51.4%) subjects were male. As the findings revealed, 1376 (93.4%) newborns showed normal G6PD activity, while 98 (6.6%) had G6PD deficiency. There was a significant difference in the mean G6PD level between males and females (P = 0.0001). Also, a significant relationship was detected between FST results and the mean values obtained in the quantitative test (P < 0.0001).

CONCLUSION

According to the present study, FST showed acceptable sensitivity and specificity for G6PD activity, although it appeared inefficient for diagnostic purposes in some cases.

摘要

引言

鉴于葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在新生儿中普遍存在,各国已建立了不同的筛查方法。在本研究中,我们旨在评估伊朗拉什特市新生儿中G6PD缺乏症的患病率,并使用定量和定性检测方法比较脐带血样本中的G6PD活性。

方法

这项横断面前瞻性研究在伊朗吉兰省拉什特市的五家最大医院进行。对转诊至这些医院的所有新生儿进行筛查检测。使用动力学方法和定性荧光斑点试验(FST),在紫外线下根据G6PD活性对样本进行表征。我们还确定了定性检测的灵敏度、特异性、阴性预测值和阳性预测值。

结果

从1474名新生儿中采集了血样。总体而言,757名(51.4%)受试者为男性。研究结果显示,1376名(93.4%)新生儿的G6PD活性正常,而98名(6.6%)有G6PD缺乏症。男性和女性的平均G6PD水平存在显著差异(P = 0.0001)。此外,FST结果与定量检测获得的平均值之间存在显著相关性(P < 0.0001)。

结论

根据本研究,FST对G6PD活性显示出可接受的灵敏度和特异性,尽管在某些情况下其诊断效率似乎不高。

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