Dihydropyrimidine dehydrogenase deficiency as a cause of fatal 5-Fluorouracil toxicity

5-Fluorouracil (5-FU), in combination with other cytotoxic drugs, is commonly used to treat a variety of cancers. Dihydropyrimidine dehydrogenase (DPD) catalyzes the first catabolic step of the 5-FU degradation pathway, converting 80% of 5-FU to its inactive metabolite. Approximately 0.3% of the pop...

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Detalles Bibliográficos
Autores principales: Fidai, Shiraz S., Sharma, Aarti E., Johnson, Daniel N., Segal, Jeremy P., Lastra, Ricardo R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2018
Materias:
Article / Autopsy Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360833/
https://www.ncbi.nlm.nih.gov/pubmed/30775324
http://dx.doi.org/10.4322/acr.2018.049
Descripción
Sumario:5-Fluorouracil (5-FU), in combination with other cytotoxic drugs, is commonly used to treat a variety of cancers. Dihydropyrimidine dehydrogenase (DPD) catalyzes the first catabolic step of the 5-FU degradation pathway, converting 80% of 5-FU to its inactive metabolite. Approximately 0.3% of the population demonstrate complete DPD deficiency, translating to extreme toxicity of 5-FU. Here we present a case of a patient who had a fatal outcome after treatment with 5-FU who was found to have an unknown DPD deficiency discovered at autopsy.

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