Department of Pharmacy, Scheper Hospital Emmen and Röpcke Zweers Hospital Hardenberg, Emmen, The Netherlands.
Pharmacogenomics J. 2013 Oct;13(5):389-95. doi: 10.1038/tpj.2013.25. Epub 2013 Jul 16.
5-Fluorouracil (5-FU) is rapidly degraded by dihyropyrimidine dehydrogenase (DPD). Therefore, DPD deficiency can lead to severe toxicity or even death following treatment with 5-FU or capecitabine. Different tests based on assessing DPD enzyme activity, genetic variants in DPYD and mRNA variants have been studied for screening for DPD deficiency, but none of these are implemented broadly into clinical practice. We give an overview of the tests that can be used to detect DPD deficiency and discuss the advantages and disadvantages of these tests.
5-氟尿嘧啶（5-FU）可被二氢嘧啶脱氢酶（DPD）快速降解。因此，DPD 缺乏可导致在使用 5-FU 或卡培他滨治疗后出现严重毒性甚至死亡。已有多种基于 DPD 酶活性、DPYD 基因变异和 mRNA 变异评估的检测方法被用于 DPD 缺乏的筛查，但尚未广泛应用于临床实践。我们综述了可用于检测 DPD 缺乏的检测方法，并讨论了这些检测方法的优缺点。
