title: Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene.
abstract: Systemic juvenile idiopathic arthritis (SJIA) is a disorder characterized by arthritis in children starting before 16 years of age associated with daily high fever, persisting for more than 2 weeks, and at least one of the following clinical features: evanescent cutaneous rash, lymphadenopathy, serositis or hepatosplenomegaly. SJIA patients carry a significantly higher frequency of MEFV mutations, the gene responsible for familial Mediterranean fever, and may be characterized by a more aggressive disease. In this line, we describe a 9-year-old girl affected with SJIA who carried a heterozygous G196W mutation in MEFV. Our patient was characterized by an aggressive disease course, resistance to conventional immunosuppressive agents and developed renal amyloidosis just 2 years after the disease onset.
authors.affiliation: Unit of Rheumatology, Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100 Siena, Italy. cantariniluca@hotmail.com
authors.forename: Luca
authors.initials: L
authors.lastname: Cantarini
authors.forename: Orso Maria
authors.initials: OM
authors.lastname: Lucherini
authors.forename: Gabriele
authors.initials: G
authors.lastname: Simonini
authors.forename: Mauro
authors.initials: M
authors.lastname: Galeazzi
authors.forename: Cosima Tatiana
authors.initials: CT
authors.lastname: Baldari
authors.forename: Rolando
authors.initials: R
authors.lastname: Cimaz
mesh_terms: D017668:Age of Onset; D028226:Amyloidosis, Familial / Q000150:complications / Q000235:genetics*; D001171:Arthritis, Juvenile / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D000071198:Pyrin; D011859:Radiography
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin