Clinical Characteristics And Gene Analysis Of 9 Children With Periodic Fever,Aphthous Stomatitis Pharyngitis And Adenopathy Syndrome

ObjectiveTo investigate the clinical features,inflammatory and genetic characteristics of cases with periodic fever,aphthous stomatitis,pharyngitis and adenitis(PFAPA).MethodsCharacteristics of clinical data and gene mutation of 9 cases with PFAPA were retrospectively analyzed.The levels of plasma inflammatory cytokines were measured by Milliplex HCYTOMAG-60 K kit,and further difference comparisons were made between febrile period and intermittent fever.ResultsA total of 9 cases(6 females and 3 males)were included.The median onset age was 13 months old(ranging from 3 months to 5 years old),and the median age at diagnosis was 6 years old((ranging from 11 months to 12 years 7 months old).The median febrile duration was 4 to 5 days,and the intermittent fever period lasted 1 to 8 weeks.All the cases had periodic fever and pharyngitis /tonsillitis,5 of them were accompanied by lymphadenitis,and 3 of them suffered from oral ulcers.The count of white blood cells,levels of C reactive protein and Serum amyloid A were elevated at febrile period,and returned to normal at intermittent fever period.Compared to cases at intermittent fever period or healthy children,plasma levels of IL-6,G-CSF and IFN-? were increased in cases at febrile period,while levels of IL-1?,IL-17 and TNF-? had no significant difference.Gene sequencing analysis resulted MEFV gene heterozygous mutations in 6 cases.4 of them had c.442G> C heterozygous mutations,one showed c.605G> A heterozygous mutation,and one had both c.442G> C and c.329T> C heterozygous mutations.ConclusionPFAPA often manifests as periodic fever,pharyngitis,tonsillitis,aphthous stomatitis and oral ulcers.Gene sequencing analysis,detection of inflammation index and cytokine levels can help to diagnose the disease.