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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.

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Correspondence to Luca Cantarini.

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L. Cantarini and O. M. Lucherini contributed equally to this study.

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Cantarini, L., Lucherini, O.M., Simonini, G. et al. Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene. Rheumatol Int 32, 465–467 (2012). https://doi.org/10.1007/s00296-009-1331-7

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  • DOI: https://doi.org/10.1007/s00296-009-1331-7

Keywords

  • Systemic juvenile idiopathic arthritis
  • Familial Mediterranean fever
  • MEFV gene
  • AA amyloidosis