title: Progression of palindromic rheumatism to juvenile idiopathic arthritis in a Japanese girl carrying heterozygous L110P-E148Q substitutions of MEFV gene.
abstract: Palindromic rheumatism (PR), a rare disease in children, is characterized by recurrent arthritis or periarthritis and asymptomatic interval. We report evolution of PR to juvenile idiopathic arthritis in a Japanese girl with heterozygous complex L110P-E148Q allele of MEFV gene. Poor response to colchicine alone suggests that the MEFV substitution could increase the susceptibility to arthritis rather than caused arthritis associated with atypical Familial Mediterranean Fever. Weekly methotrexate is a choice for such cases.
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kobayashi
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yamazaki
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Tozawa
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ueki
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Takezaki
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.affiliation: a Department of Pediatrics , Hokkaido University Graduate School of Medicine , Sapporo , Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use; D001171:Arthritis, Juvenile / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D001172:Arthritis, Rheumatoid / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D003078:Colchicine / Q000627:therapeutic use; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D000071198:Pyrin / Q000235:genetics*
chemical_list: D018501:Antirheumatic Agents; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine
keywords: Colchicine; Juvenile idiopathic arthritis; Matrix metalloproteinase-3; Methotrexate; Palindromic rheumatism