A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

Anna Malekkou Marios Tomazou Gavriella MavrikiouMaria DionysiouTheodoros GeorgiouIoannis PapaevripidouAngelos Alexandrou Carolina Sismani Anthi Drousiotou Olga Grafakou Petros P Petrou

Published in: BMC medical genomics (2024)

The study expands the spectrum of DPYD variants associated with DPD deficiency. Furthermore, it raises the concern that patients at risk for fluoropyrimidine toxicity due to DPYD deletions could be missed during pre-treatment genetic testing for the currently recommended single nucleotide polymorphisms.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression
combination therapy