RESUMO
A DPD deficiency should be considered in case of severe toxicity even in the absence of common risk variants in DPYD.
Assuntos
Antimetabólitos Antineoplásicos , Capecitabina , Deficiência da Di-Hidropirimidina Desidrogenase , Di-Hidrouracila Desidrogenase (NADP) , Humanos , Deficiência da Di-Hidropirimidina Desidrogenase/genética , Capecitabina/efeitos adversos , Di-Hidrouracila Desidrogenase (NADP)/genética , Antimetabólitos Antineoplásicos/efeitos adversos , Antimetabólitos Antineoplásicos/uso terapêutico , Masculino , Feminino , Evolução Fatal , Pessoa de Meia-IdadeRESUMO
SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome. We postulated that earlier onset of febrile seizures in the febrile seizure (FS) and febrile seizure plus (FS+) phenotypes may occur in the presence of a SCN1A mutation. This was because of the age-related onset of Dravet syndrome, which typically begins in the first year of life. We found that patients with FS and FS+ with SCN1A mutations had earlier median onset of febrile seizures compared to the population median. Patients with GABRG2 mutations had a similar early onset in contrast to patients with SCN1B mutations where onset was later. This study is the first to demonstrate that a specific genetic abnormality directly influences the FS and FS+ phenotype in terms of age of onset.
