ジヒドロピリミジンデヒドロゲナーゼ欠損症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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English Journal
- [A case in which dihydropyrimidine dehydrogenase deficiency was strongly suspected during adjuvant chemotherapy with capecitabine for colon cancer].
- Toshima T1, Kodera M, Yamashita Y, Oishi M, Seshimo K, Yamamura M, Kato H, Ikeda H, Mizuno K.Author information 1Dept. of Surgery, Tottori Municipal Hospital.AbstractSevere toxicity in patients with a deficiency of dihydropyrimidine dehydrogenase(DPD), an enzyme that reduces fluoropyrimidine, is very rare, and reports on this condition are few. Accordingly, diagnosis is very difficult. The patient was 70-year-old man who was admitted for adjuvant chemotherapy with capecitabine(3,600mg/day)for rectal cancer. He was admitted to our hospital because of severe oral mucositis(grade 3)and hand-foot syndrome(grade 3). After hospitalization, he experienced complications with neutropenia(grade 4)and thrombocytopenia(grade 4). The patient died 25 days after the onset of chemotherapy. Despite the measurement of the DPD value in mononuclear cells of peripheral blood and urophanic uracil and dihydrouracil, we were unable to diagnose DPD deficiency. However, we suspected a partial deficiency of DPD on the basis of the clinical course.
- Gan to kagaku ryoho. Cancer & chemotherapy.Gan To Kagaku Ryoho.2013 Nov;40(11):1549-52.
- Severe toxicity in patients with a deficiency of dihydropyrimidine dehydrogenase(DPD), an enzyme that reduces fluoropyrimidine, is very rare, and reports on this condition are few. Accordingly, diagnosis is very difficult. The patient was 70-year-old man who was admitted for adjuvant chemotherapy wi
- PMID 24231713
- Dihydropyrimidine Dehydrogenase 85T>C Mutation Is Associated With Ocular Toxicity of 5-Fluorouracil: A Case Report.
- Baskin Y1, Amirfallah A, Unal OU, Calibasi G, Oztop I.Author information 11Department of Basic Oncology, Institute of Oncology, Dokuz Eylul University, Izmir, Turkey; 2Department of Clinical Oncology, Ataturk University, Erzurum, Turkey; and 3Department of Clinical Oncology, Dokuz Eylul University, Izmir; Turkey.Abstract5-Fluorouracil (5-FU), the mainstay of solid tumor chemotherapy over the past 40 years, induces grade III-IV toxicities in up to 15% of patients with polymorphisms in the dihydropyrimidine dehydrogenase (DPYD), thymidylate synthase (TYMS), and methylenetetrahydrofolate reductase (MTHFR) genes. These toxicities include mucositis, neutropenia, nausea, diarrhea, myelosuppression, hand-foot syndrome, and rare ocular adverse effects. Here, we present the case of a female patient with rectal cancer who received 5-FU-based chemotherapy and developed grade III hand-foot syndrome and rare acute ocular adverse effects. Genetic analysis revealed that the patient had an 85T>C mutation in the DPYD gene resulting in a DPYD*9A allele. The clinical and molecular observations indicate that DPYD deficiency may be responsible for the severe ocular adverse effects observed in 5-FU-treated patients. Application of personalized therapy based on molecular testing should help clinicians provide the most effective chemotherapy agents and dose modifications for each patient, although further population-based pharmacogenetic trials for the 5-FU metabolism-related genes are necessary to minimize adverse effects and enhance clinical outcomes.
- American journal of therapeutics.Am J Ther.2013 Jul 25. [Epub ahead of print]
- 5-Fluorouracil (5-FU), the mainstay of solid tumor chemotherapy over the past 40 years, induces grade III-IV toxicities in up to 15% of patients with polymorphisms in the dihydropyrimidine dehydrogenase (DPYD), thymidylate synthase (TYMS), and methylenetetrahydrofolate reductase (MTHFR) genes. These
- PMID 24434920
- Dihydropyrimidine dehydrogenase gene (DPYD) polymorphism among Caucasian and non-Caucasian patients with 5-FU- and capecitabine-related toxicity using full sequencing of DPYD.
- Saif MW.Author information Tufts Medical Center, Tufts University School of Medicine, Division of Hematology/Oncology, Department of Medicine, Director, GI Oncology Program, 800 Washington Street, Box 245, Boston, MA 02111, USA. wsaif@tuftsmedicalcenter.orgAbstractBACKGROUND: Dihydropyrimidine dehydrogenase (DPD) is the rate-limiting enzyme of the degradation of pyrimidine base, and plays a pivotal role in the pharmacogenetic syndrome of 5-fluorouracil (5-FU). Deficiency of DPD activity leads to severe toxicities, even death, following administration of 5-FU. Several studies have demonstrated that molecular defects of the dihydropyrimidine dehydrogenase gene (DPYD) lead to the deficiency of DPD activity and cause this pharmacogenetic syndrome. We present the analysis of DPYD genotyping in untreated Caucasian patients (control group) and Caucasian patients with 5-FU/CAP-related grade 3/4 toxicities (toxicity group) who underwent a capecitabine TheraGuide 5-FU testing.
- Cancer genomics & proteomics.Cancer Genomics Proteomics.2013 Mar-Apr;10(2):89-92.
- BACKGROUND: Dihydropyrimidine dehydrogenase (DPD) is the rate-limiting enzyme of the degradation of pyrimidine base, and plays a pivotal role in the pharmacogenetic syndrome of 5-fluorouracil (5-FU). Deficiency of DPD activity leads to severe toxicities, even death, following administration of 5-FU.
- PMID 23603345
Related Links
- 1. Clin Colorectal Cancer. 2004 Sep;4(3):181-9. Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. Ezzeldin H, Diasio R. ...
- Dihydropyrimidine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Depending on the severity of these mutations, people with ...
- Dihydropyrimidine dehydrogenase deficiency (DPD) in GI malignancies: Experience of 4-years M. Wasif Saif 1, Kostas Syrigos 2, Ranee Mehra 3, Lori K. Mattison 4, Robert B Diasio 5 ABSTRACT Objectives: 5-Fluorouracil (5-FU ...
★リンクテーブル★
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- 英
- dihydropyrimidine dehydrogenase deficiency syndrome
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- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
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ジヒドロピリミジン脱水素酵素、ジヒドロピリミジンデヒドロゲナーゼ
- 関
- dihydrouracil dehydrogenase NADP、DPD
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脱水素酵素 デヒドロゲナーゼ
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脱水素酵素 デヒドロゲナーゼ
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ジヒドロピリミジン