Abstract
World Pediatrics 2019: Effectiveness of surgical treatment in patient with PFAPA and congenital syndrome - Natalia Antonova - Tallinn Childrenôs Hospital
Introduction: The pathogenesis of the pediatric disorder periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome is unknown. It is regarded as an auto inflammatory process. Children are asymptomatic between episodes and show normal growth. No specific diagnostic test for PFAPA is currently available. Syndrome has overlapping symptoms with other periodic fever syndromes with a known genetic cause. Genomic analysis of familial cases by genome-wide linkage analysis and whole-exome sequencing did not reveal rare variants in a single, common gene. In addition, genetic variants that are known to cause other auto inflammatory syndromes have been found in PFAPA patients, but the impact of these genetic variants in PFAPA syndrome is still unknown.
Author(s):
Natalia Antonova
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