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.
Abstract
摘要
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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。
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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.
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