Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Department of Genetics, Stanford University, Stanford, California, USA.
Clin Pharmacol Ther. 2014 Aug;96(2):169-74. doi: 10.1038/clpt.2014.97. Epub 2014 May 2.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia (AHA) induced by a number of drugs. We provide guidance as to which G6PD genotypes are associated with G6PD deficiency in males and females. Rasburicase is contraindicated in G6PD-deficient patients due to the risk of AHA and possibly methemoglobinemia. Unless preemptive genotyping has established a positive diagnosis of G6PD deficiency, quantitative enzyme assay remains the mainstay of screening prior to rasburicase use. The purpose of this article is to help interpret the results of clinical G6PD genotype tests so that they can guide the use of rasburicase. Detailed guidelines on other aspects of the use of rasburicase, including analyses of cost-effectiveness, are beyond the scope of this document. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines are published and updated periodically on https://www.pharmgkb.org/page/cpic to reflect new developments in the field.
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症与多种药物引起的急性溶血性贫血(AHA)的发展有关。我们提供了关于哪些 G6PD 基因型与男性和女性的 G6PD 缺乏症相关的指导。由于 AHA 和可能的高铁血红蛋白血症的风险,拉布立酶在 G6PD 缺乏症患者中被禁用。除非预先进行基因分型已确定 G6PD 缺乏症的阳性诊断,否则在使用拉布立酶之前,定量酶测定仍然是筛选的主要方法。本文的目的是帮助解释临床 G6PD 基因型检测的结果,以便指导拉布立酶的使用。关于拉布立酶使用的其他方面的详细指南,包括成本效益分析,超出了本文档的范围。临床药物遗传学实施联盟(CPIC)指南定期在 https://www.pharmgkb.org/page/cpic 上发布和更新,以反映该领域的新发展。