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使用三种检测方法筛查葡萄糖-6-磷酸脱氢酶缺乏症:乌干达西南部的横断面调查

Screening for Glucose-6-Phosphate Dehydrogenase Deficiency Using Three Detection Methods: A Cross-Sectional Survey in Southwestern Uganda.

作者信息

Roh Michelle E, Oyet Caesar, Orikiriza Patrick, Wade Martina, Mwanga-Amumpaire Juliet, Boum Yap, Kiwanuka Gertrude N, Parikh Sunil

机构信息

Yale School of Public Health, New Haven, Connecticut.

University of California, San Francisco, California.

出版信息

Am J Trop Med Hyg. 2016 Nov 2;95(5):1094-1099. doi: 10.4269/ajtmh.16-0552. Epub 2016 Sep 26.

Abstract

Despite the potential benefit of primaquine in reducing Plasmodium falciparum transmission and radical cure of Plasmodium vivax and Plasmodium ovale infections, concerns over risk of hemolytic toxicity in individuals with glucose-6-phosphate dehydrogenase deficiency (G6PDd) have hampered its deployment. A cross-sectional survey was conducted in 2014 to assess the G6PDd prevalence among 631 children between 6 and 59 months of age in southwestern Uganda, an area where primaquine may be a promising control measure. G6PDd prevalence was determined using three detection methods: a quantitative G6PD enzyme activity assay (Trinity Biotech G-6-PDH kit), a qualitative point-of-care test (CareStart G6PD rapid diagnostic test [RDT]), and molecular detection of the G6PD A- G202A allele. Qualitative tests were compared with the gold standard quantitative assay. G6PDd prevalence was higher by RDT (8.6%) than by quantitative assay (6.8%), using a < 60% activity threshold. The RDT performed optimally at a < 60% threshold and demonstrated high sensitivity (≥ 90%) and negative predictive values (100%) across three activity thresholds (below 60%, 30%, and 40%). G202A allele frequency was 6.4%, 7.9%, and 6.8% among females, males, and overall, respectively. Notably, over half of the G202A homo-/hemizygous children expressed ≥ 60% enzyme activity. Overall, the CareStart G6PD RDT appears to be a viable screening test to accurately identify individuals with enzyme activities below 60%. The low prevalence of G6PDd across all three diagnostic modalities and absence of severe deficiency in our study suggests that there is little barrier to the use of single-dose primaquine in this region.

摘要

尽管伯氨喹在减少恶性疟原虫传播以及根治间日疟原虫和卵形疟原虫感染方面具有潜在益处,但对葡萄糖-6-磷酸脱氢酶缺乏症(G6PDd)个体发生溶血性毒性风险的担忧阻碍了其应用。2014年开展了一项横断面调查,以评估乌干达西南部631名6至59月龄儿童中的G6PDd患病率,该地区伯氨喹可能是一种有前景的控制措施。采用三种检测方法确定G6PDd患病率:定量G6PD酶活性测定(Trinity Biotech G-6-PDH试剂盒)、定性即时检验(CareStart G6PD快速诊断检测[RDT])以及G6PD A- G202A等位基因的分子检测。将定性检测与金标准定量测定进行比较。使用<60%活性阈值时,RDT检测出的G6PDd患病率(8.6%)高于定量测定(6.8%)。RDT在<60%阈值时表现最佳,在三个活性阈值(低于60%、30%和40%)下均显示出高灵敏度(≥90%)和阴性预测值(100%)。女性、男性和总体的G202A等位基因频率分别为6.4%、7.9%和。值得注意的是,超过一半的G202A纯合/半合子儿童酶活性≥60%。总体而言,CareStart G6PD RDT似乎是一种可行的筛查检测方法,可准确识别酶活性低于60%的个体。在所有三种诊断方法中G6PDd患病率较低且本研究中未出现严重缺乏情况,这表明在该地区使用单剂量伯氨喹几乎没有障碍。

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