Optimizing G6PD testing for Plasmodium vivax case management: why sex, counseling, and community engagement matter.
Optimizing G6PD testing for Plasmodium vivax case management: why sex, counseling, and community engagement matter.
复制标题
DOI：
10.12688/wellcomeopenres.15700.1
复制
发表时间：
2020-01-01
影响因子：
--
通讯作者：
Gerth-Guyette, Emily
中科院分区：
文献类型：
--
作者：
Chu, Cindy S;Bancone, Germana;Gerth-Guyette, Emily
间日疟原虫疟疾最有效的治疗方案的安全获取受到限制，因为缺乏准确的即时检测方法来检测葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症，这是最常见的人类遗传疾病。g6pd缺陷患者暴露于8-氨基喹啉类药物（唯一对间日疟原虫有效的药物）时，存在危及生命的溶血风险。直到最近，在大多数情况下只能进行定性测试。这些方法可以准确地识别严重G6PD缺乏症患者（主要是男性），但不能识别中度G6PD缺乏症患者（通常是女性）。这导致并强化了临床实践中对女性G6PD缺乏症的风险和影响的认识差距——与男性不同，女性可能具有G6PD的杂合基因型。越来越多的人认识到根除间日疟原虫的必要性，首先是为了患者的健康，然后是为了消除疟疾，这推动了针对G6PD缺乏症的新的护理点检测的发展，并推动了这些检测在资源匮乏地区的人群中的可及性。通过确保安全有效的疟疾治疗，提供提供支持性咨询以加强对基因检测结果的了解，以及改善新生儿及其家庭成员中所有G6PD缺乏症表型的检测，提供简单、负担得起和准确的即时诊断，可以减少与性别相关的差异。
Safe access to the most effective treatment options for Plasmodium vivaxmalaria are limited by the absence of accurate point-of-care testingto detect glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common human genetic disorder. G6PD-deficient patients are at risk of life-threatening hemolysis when exposed to 8-aminoquinolines, the only class of drugs efficacious against P. vivaxhypnozoites. Until recently, only qualitative tests were available in most settings. These accurately identify patients with severe G6PD deficiency (mostly male) but not patients with intermediate G6PD deficiency (always female).This has led to and reinforced a gap in awareness in clinical practice of the risks and implications of G6PD deficiency in females-who, unlike males, can have a heterozygous genotype for G6PD.Increasing recognition of the need for radical cure of P. vivax, first for patients' health and then for malaria elimination, is driving the development of new point-of-care tests for G6PD deficiency and their accessibility to populations in low-resource settings. The availability of simple, affordable, and accurate point-of-care diagnostics for the precise classification of the three G6PD phenotypes can reduce sex-linked disparities by ensuring safe and effective malaria treatment, providing opportunities to develop supportive counseling to enhance understanding of genetic test results, and improving the detection of all G6PD deficiency phenotypes in newborns and their family members.