title: The first case of adult-onset PFAPA syndrome in Japan.
abstract: A 26-year-old woman presented with fever and pharyngitis. She previously experienced four periodic febrile episodes at 30- to 40-day intervals. We suspected periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, and prescribed predisolone, thereby her fever rapidly subsided. Her febrile episodes improved after daily cimetidine treatment. Genetic testing results of genomic DNA for periodic fever syndromes were negative, although she was heterozygous for p.Glu148Gln variation in MEFV, supporting the diagnosis of PFAPA syndrome.
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kutsuna
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Norio
authors.initials: N
authors.lastname: Ohmagari
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Ryutaro
authors.initials: R
authors.lastname: Tanizaki
authors.affiliation: b Department of Hematology and Rheumatology , Teikyo University Chiba Medical Center, Ichuhara-city , Chiba , Japan.
authors.forename: Noboru
authors.initials: N
authors.lastname: Hagino
authors.affiliation: c Department of Pediatrics , Kyoto University Graduate School of Medicine , Sakyo-ku, Kyoto , Japan.
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Mugen
authors.initials: M
authors.lastname: Ujiie
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Nozomi
authors.initials: N
authors.lastname: Takeshita
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Kayoko
authors.initials: K
authors.lastname: Hayakawa
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Kato
authors.affiliation: a National Center for Global Health and Medicine, Disease Control and Prevention Center , Shinjuku-ku, Tokyo , Japan.
authors.forename: Shuzo
authors.initials: S
authors.lastname: Kanagawa
mesh_terms: D000328:Adult; D002927:Cimetidine / Q000627:therapeutic use; D003598:Cytoskeletal Proteins / Q000235:genetics; D005260:Female; D005334:Fever / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005938:Glucocorticoids / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008199:Lymphadenitis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D010612:Pharyngitis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011239:Prednisolone / Q000627:therapeutic use; D000071198:Pyrin; D013281:Stomatitis, Aphthous / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D003598:Cytoskeletal Proteins; D005938:Glucocorticoids; C000604192:MEFV protein, human; D000071198:Pyrin; D002927:Cimetidine; D011239:Prednisolone
keywords: Autoinflammatory syndromes; MEFV gene; PFAPA syndrome; Periodic fever syndromes; p.Glu148Gln variation