PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, (PFAPA) SYNDROME AND NLRP3 GENE ASSOCIATION

Abstract

PFAPA syndrome, which also includes aphthous stomatitis, pharyngitis, and adenitis, is the most common type of recurrent fever in children. Usually happens before the age of five. This syndrome is characterized by attacks lasting 3-7 days, recurring every 2-8 weeks with high fever (39 C and above) accompanied by at least one of the signs of aphthous stomatitis, pharyngitis, and/or cervical adenitis. Between attacks, the child is completely healthy.PFAPA is a benign disease that regresses with age. Steroids are used in the treatment of attacks. Colchicine is often preferred in prophylactic treatment. However, if there is no response to medical treatment, surgery (tonsillectomy) can be performed. Genetic and environmental factors are considered in the etiology. Genetic susceptibility concentrated on the genes for Familiar Mediterranean Fever (FMF, MEFV), TNF-Receptor-Associated Periodic Syndrome (TRAPS, gene TNFRF1A), HyperIgDSyndrome (HIDS, gene MVK), and Cryopyrin-Associated Periodic Syndrome (CAPS, gene NLRP3). But its etiology is still unknown.