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1
Lethal outcome of 5-fluorouracil infusion in a patient with a total DPD deficiency and a double DPYD and UTG1A1 gene mutation.一名患有二氢嘧啶脱氢酶（DPD）完全缺乏症以及双二氢嘧啶脱氢酶（DPYD）和尿苷二磷酸葡萄糖醛酸转移酶1A1（UGT1A1）基因突变的患者在输注5-氟尿嘧啶后出现致命结局。
Br J Clin Pharmacol. 2010 Aug;70(2):280-3. doi: 10.1111/j.1365-2125.2010.03686.x.
2
Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.对一个具有新型有害 DPYD 突变的家系进行基因分型，支持用二氢尿嘧啶/尿嘧啶比值进行 DPD 缺乏症的治疗前筛查。
Clin Pharmacol Ther. 2016 Feb;99(2):235-42. doi: 10.1002/cpt.210. Epub 2015 Nov 10.
3
Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity.治疗前血清尿嘧啶浓度作为严重和致命性氟嘧啶相关毒性的预测指标。
Br J Cancer. 2017 May 23;116(11):1415-1424. doi: 10.1038/bjc.2017.94. Epub 2017 Apr 20.
4
[Dihydropyrimidine déhydrogenase (DPD) deficiency screening and securing of fluoropyrimidine-based chemotherapies: Update and recommendations of the French GPCO-Unicancer and RNPGx networks].[二氢嘧啶脱氢酶（DPD）缺乏症筛查与基于氟嘧啶的化疗保障：法国GPCO-法国国立癌症研究所联盟和RNPGx网络的更新与建议]
Bull Cancer. 2018 Apr;105(4):397-407. doi: 10.1016/j.bulcan.2018.02.001. Epub 2018 Feb 24.
5
Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.双氢嘧啶脱氢酶（DPYD）基因c.1129-5923C>G纯合子/单倍型B3的患者存在部分双氢嘧啶脱氢酶缺乏，在接受氟嘧啶治疗时需要减少剂量。
Cancer Chemother Pharmacol. 2016 Oct;78(4):875-80. doi: 10.1007/s00280-016-3137-0. Epub 2016 Aug 20.
6
Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy.采用贝叶斯有限采样策略评估 DPYD c.1905+1G>A 突变的癌症患者体内 5-氟尿嘧啶的药代动力学。
Clin Pharmacokinet. 2012 Mar 1;51(3):163-74. doi: 10.1007/BF03257473.
7
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.由于影响 DPD 活性和 mRNA 剪接的新型和罕见 DPYD 错义突变、缺失和基因组扩增导致严重的氟尿嘧啶毒性。
Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):721-730. doi: 10.1016/j.bbadis.2016.12.010. Epub 2016 Dec 24.
8
New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.新的 DPYD 变异导致接受氟嘧啶治疗的患者 DPD 缺乏。
Cancer Chemother Pharmacol. 2020 Jul;86(1):45-54. doi: 10.1007/s00280-020-04093-1. Epub 2020 Jun 11.
9
DPYD*2A mutation: the most common mutation associated with DPD deficiency.DPYD*2A突变：与二氢嘧啶脱氢酶缺乏症相关的最常见突变。
Cancer Chemother Pharmacol. 2007 Sep;60(4):503-7. doi: 10.1007/s00280-006-0392-5. Epub 2006 Dec 13.
10
The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil.血浆中二氢尿嘧啶/尿嘧啶比值、临床及基因分析用于筛查接受5-氟尿嘧啶治疗的结直肠癌患者的二氢嘧啶脱氢酶缺乏症
Pathol Biol (Paris). 2009 Sep;57(6):470-6. doi: 10.1016/j.patbio.2008.05.001. Epub 2008 Jul 10.

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1
Association between miRNA expression profiles and polymorphisms of dihydropyrimidine dehydrogenase drug-metabolizing gene in patients with colorectal cancer receiving 5-fluorouracil.接受5-氟尿嘧啶治疗的结直肠癌患者中，微小RNA表达谱与二氢嘧啶脱氢酶药物代谢基因多态性之间的关联
Biomed Rep. 2025 Sep 11;23(5):175. doi: 10.3892/br.2025.2053. eCollection 2025 Nov.
2
Feasibility and population exposure of 5-fluorouracil using therapeutic drug monitoring (PREDICT-5FU): A multicentre clinical trial.使用治疗药物监测的5-氟尿嘧啶的可行性和人群暴露情况（PREDICT-5FU）：一项多中心临床试验。
Br J Clin Pharmacol. 2025 Jul;91(7):1965-1974. doi: 10.1002/bcp.70006. Epub 2025 Feb 23.
3
Influence of DPYD gene polymorphisms on 5-Fluorouracil toxicities in Thai colorectal cancer patients.DPYD基因多态性对泰国结直肠癌患者5-氟尿嘧啶毒性的影响。
Cancer Chemother Pharmacol. 2024 Dec 9;95(1):2. doi: 10.1007/s00280-024-04722-z.
4
Severe Gastrointestinal Disorder Due to Capecitabine Associated with Dihydropyrimidine Dehydrogenase Deficiency: A Case Report and Literature Review.卡培他滨所致严重胃肠道疾病伴二氢嘧啶脱氢酶缺乏症：1例报告及文献复习
Intern Med. 2022 Aug 15;61(16):2449-2455. doi: 10.2169/internalmedicine.8636-21. Epub 2022 Feb 1.
5
Comparison of 4 Screening Methods for Detecting Fluoropyrimidine Toxicity Risk: Identification of the Most Effective, Cost-Efficient Method to Save Lives.四种检测氟嘧啶毒性风险的筛查方法比较：确定最有效、最具成本效益的挽救生命方法。
Dose Response. 2020 Sep 14;18(3):1559325820951367. doi: 10.1177/1559325820951367. eCollection 2020 Jul-Sep.
6
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.氟嘧啶代谢酶的体外评估：二氢嘧啶脱氢酶、二氢嘧啶酶和β-脲基丙酸酶
J Clin Med. 2020 Jul 22;9(8):2342. doi: 10.3390/jcm9082342.
7
A case report of a severe fluoropyrimidine-related toxicity due to an uncommon DPYD variant.一例因罕见的二氢嘧啶脱氢酶（DPYD）变体导致的严重氟嘧啶相关毒性的病例报告。
Medicine (Baltimore). 2019 May;98(21):e15759. doi: 10.1097/MD.0000000000015759.
8
Cytomegalovirus enterocolitis in a patient with dihydropyrimidine dehydrogenase deficiency after capecitabine treatment: A case report.卡培他滨治疗后二氢嘧啶脱氢酶缺乏患者的巨细胞病毒性小肠结肠炎：一例报告
Int J Surg Case Rep. 2019;56:55-58. doi: 10.1016/j.ijscr.2019.02.022. Epub 2019 Feb 23.
9
Delayed Presentation of DPD Deficiency in Colorectal Cancer.结直肠癌中DPD缺乏的延迟表现
J Adv Pract Oncol. 2014 May;5(3):205-10. doi: 10.6004/jadpro.2014.5.3.5.
10
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.高分辨率熔解分析常见的 c.1905+1G>A 突变导致二氢嘧啶脱氢酶缺乏和致命的 5-氟尿嘧啶毒性。
Front Genet. 2013 Jan 17;3:312. doi: 10.3389/fgene.2012.00312. eCollection 2012.

本文引用的文献

1
Should DPD analysis be required prior to prescribing fluoropyrimidines?在开具氟嘧啶类药物之前是否需要进行二氢嘧啶脱氢酶（DPD）分析？
Eur J Cancer. 2007 Apr;43(6):1011-6. doi: 10.1016/j.ejca.2007.01.030. Epub 2007 Mar 12.
2
DPYD*2A mutation: the most common mutation associated with DPD deficiency.DPYD*2A突变：与二氢嘧啶脱氢酶缺乏症相关的最常见突变。
Cancer Chemother Pharmacol. 2007 Sep;60(4):503-7. doi: 10.1007/s00280-006-0392-5. Epub 2006 Dec 13.
3
Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance.不同二氢嘧啶脱氢酶基因单核苷酸多态性对5-氟尿嘧啶耐受性的临床相关性
Mol Cancer Ther. 2006 Nov;5(11):2895-904. doi: 10.1158/1535-7163.MCT-06-0327.
4
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency.5-氟尿嘧啶相关的严重毒性：二氢嘧啶脱氢酶缺乏症治疗前检测不同方法的比较
Cancer Lett. 2007 May 8;249(2):271-82. doi: 10.1016/j.canlet.2006.09.006. Epub 2006 Oct 24.
5
Identification of a novel mutation in the dihydropyrimidine dehydrogenase gene in a patient with a lethal outcome following 5-fluorouracil administration and the determination of its frequency in a population of 500 patients with colorectal carcinoma.在一名接受5-氟尿嘧啶治疗后出现致命后果的患者中鉴定二氢嘧啶脱氢酶基因的一种新突变，并测定其在500名结直肠癌患者群体中的频率。
Clin Biochem. 2007 Jan;40(1-2):11-7. doi: 10.1016/j.clinbiochem.2006.07.012. Epub 2006 Sep 1.
6
How may anticancer chemotherapy with fluorouracil be individualised?氟尿嘧啶的抗癌化疗如何实现个体化？
Clin Pharmacokinet. 2006;45(6):567-92. doi: 10.2165/00003088-200645060-00002.
7
An accurate dihydrouracil/uracil determination using improved high performance liquid chromatography method for preventing fluoropyrimidines-related toxicity in clinical practice.采用改进的高效液相色谱法准确测定二氢尿嘧啶/尿嘧啶，以预防临床实践中氟嘧啶类药物相关毒性。
J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):98-107. doi: 10.1016/j.jchromb.2005.05.044.
8
5-Fluorouracil/irinotecan induced lethal toxicity as a result of a combined pharmacogenetic syndrome: report of a case.5-氟尿嘧啶/伊立替康因合并药物遗传学综合征导致致死性毒性：一例报告
J Clin Pathol. 2005 May;58(5):553-5. doi: 10.1136/jcp.2004.022319.
9
Relevance of different UGT1A1 polymorphisms in irinotecan-induced toxicity: a molecular and clinical study of 75 patients.不同UGT1A1基因多态性与伊立替康所致毒性的相关性：75例患者的分子与临床研究
Clin Cancer Res. 2004 Aug 1;10(15):5151-9. doi: 10.1158/1078-0432.CCR-03-0548.
10
Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.二氢嘧啶脱氢酶与5-氟尿嘧啶的疗效和毒性
Eur J Cancer. 2004 May;40(7):939-50. doi: 10.1016/j.ejca.2003.12.004.

Lethal outcome of 5-fluorouracil infusion in a patient with a total DPD deficiency and a double DPYD and UTG1A1 gene mutation.

作者信息

Mounier-Boutoille Hélène, Boisdron-Celle Michèle, Cauchin Estelle, Galmiche Jean-Paul, Morel Alain, Gamelin Erick, Matysiak-Budnik Tamara

出版信息

Br J Clin Pharmacol. 2010 Aug;70(2):280-3. doi: 10.1111/j.1365-2125.2010.03686.x.

DOI:10.1111/j.1365-2125.2010.03686.x
PMID:20653683
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2911560/
Abstract
摘要