Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome?

Gülçin Otar Yener İlke Aktaş Ceren Altıntaş Meşe Mustafa Cakan

Published in: European journal of pediatrics (2022)

• Some PFAPA patients have Mediterranean fever (MEFV) gene variants, and it is speculated that PFAPA patients with MEFV gene mutations respond better to colchicine. • The aim of this study was to look for this hypothesis. We have seen that the clinical phenotype and colchicine response of PFAPA patients were not affected by MEFV gene sequence variants.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
genome wide
prognostic factors
young adults
patient reported outcomes
dna methylation
case report
patient reported