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Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene

Rheumatology International volume 32, pages 465–467 (2012)Cite this article

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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Authors and Affiliations

  1. Unit of Rheumatology, Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100, Siena, Italy

    Luca Cantarini & Mauro Galeazzi

  2. Department of Evolutionary Biology, University of Siena, Siena, Italy

    Orso Maria Lucherini & Cosima Tatiana Baldari

  3. Rheumatology Unit, Department of Paediatrics, Anna Meyer Children’s Hospital, University of Florence, Florence, Italy

    Gabriele Simonini & Rolando Cimaz

Authors
  1. Luca Cantarini
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  2. Orso Maria Lucherini
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  3. Gabriele Simonini
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  4. Mauro Galeazzi
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  5. Cosima Tatiana Baldari
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  6. Rolando Cimaz
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Corresponding author

Correspondence to Luca Cantarini.

Additional information

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