Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities.

Addressing the gender-knowledge gap in glucose-6-phosphate dehydrogenase deficiency: challenges and opportunities.
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DOI:
10.1093/inthealth/ihy060
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发表时间:
2019-01-01
影响因子:
2.5
通讯作者:
Kelley M
Kelley M
中科院分区:
医学3区
文献类型:
--
作者:
Domingo GJ;Advani N;Satyagraha AW;Sibley CH;Rowley E;Kalnoky M;Cohen J;Parker M;Kelley M

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葡萄糖-6-磷酸脱氢酶(G6 PD)缺乏症是一种常见的X连锁遗传性状,具有相关的酶表型,男性G6 PD缺乏或正常,但女性表现出更广泛的G6 PD缺乏症,范围从严重缺乏到正常。杂合子女性通常具有中等G6 PD活性。G6 PD缺乏对间日疟原虫疟疾的安全治疗有影响。患有这种缺陷的个体在使用唯一治疗类抗疟疾药8-氨基喹啉类药物(如伯氨喹)治疗后发生严重不良事件的风险更大。G6 PD缺乏症的定量诊断测试是复杂的,需要先进的实验室。常用的定性试验不能区分中间G6 PD活性。这导致对女性G6 PD活性的流行病学及其相应的治疗后果的理解不足。新的简单易用的定量检测方法和消除疟疾的势头为填补这一知识空白创造了机会。虽然这将需要额外的资源用于临床研究,充分的操作研究和适当的药物警戒,但这项投资的健康益处超出了首次诊断G6 PD状态的即时干预。
Glucose-6-phosphate dehyrdgoenase (G6PD) deficiency is a common X-linked genetic trait, with an associated enzyme phenotype, whereby males are either G6PD deficient or normal, but females exhibit a broader range of G6PD deficiencies, ranging from severe deficiency to normal. Heterozygous females typically have intermediate G6PD activity. G6PD deficiency has implications for the safe treatment for Plasmodium vivax malaria. Individuals with this deficiency are at greater risk of serious adverse events following treatment with the only curative class of anti-malarials, 8-aminoquinolines, such as primaquine. Quantitative diagnostic tests for G6PD deficiency are complex and require sophisticated laboratories. The commonly used qualitative tests, do not discriminate intermediate G6PD activities. This has resulted in poor understanding of the epidemiology of G6PD activity in females and its corresponding treatment ramifications. New simple-to-use quantitative tests, and a momentum to eliminate malaria, create an opportunity to address this knowledge gap. While this will require additional resources for clinical studies, adequate operational research, and appropriate pharmacovigilance, the health benefits from this investment go beyond the immediate intervention for which the G6PD status is first diagnosed.
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