The Journal of Pediatrics
Volume 157, Issue 2 , Pages 310-315.e1 , August 2010

Follow-Up and Quality of Life of Patients with Cryopyrin-Associated Periodic Syndromes Treated with Anakinra

  • Loredana Lepore, MD

      Affiliations

    • IRCCS Burlo Garofolo, the Department of Reproductive and Developmental Sciences, University of Trieste, Italy
    • ,
  • Giulia Paloni, MD

      Affiliations

    • IRCCS Burlo Garofolo, the Department of Reproductive and Developmental Sciences, University of Trieste, Italy
    • ,
  • Roberta Caorsi, MD

      Affiliations

    • II Division of Pediatrics, “G. Gaslini” Institute for Children and Department of Pediatrics, Genoa, Italy
    • ,
  • Maria Alessio, MD

      Affiliations

    • Department of Pediatrics, Federico II Hospital, Naples, Italy
    • ,
  • Donato Rigante, MD

      Affiliations

    • Department of Pediatric Sciences, Catholic University of Sacred Heart, Rome
    • ,
  • Nicola Ruperto, MD

      Affiliations

    • II Division of Pediatrics, “G. Gaslini” Institute for Children and Department of Pediatrics, Genoa, Italy
    • ,
  • Marco Cattalini, MD

      Affiliations

    • Department of Rheumatology and Immunology, Brescia Hospital and University of Brescia, Italy
    • ,
  • Alberto Tommasini, MD

      Affiliations

    • IRCCS Burlo Garofolo, the Department of Reproductive and Developmental Sciences, University of Trieste, Italy
    • ,
  • Francesco Zulian, MD

      Affiliations

    • Pediatric Rheumatology Unit, Department of Pediatrics, University of Padova, Italy
    • ,
  • Alessando Ventura, MD

      Affiliations

    • IRCCS Burlo Garofolo, the Department of Reproductive and Developmental Sciences, University of Trieste, Italy
    • ,
  • Alberto Martini, MD

      Affiliations

    • II Division of Pediatrics, “G. Gaslini” Institute for Children and Department of Pediatrics, Genoa, Italy
    • ,
  • Marco Gattorno, MD

      Affiliations

    • II Division of Pediatrics, “G. Gaslini” Institute for Children and Department of Pediatrics, Genoa, Italy
    • Corresponding Author InformationReprint requests: Marco Gattorno, MD, UC Pediatria II, G. Gaslini Institute, Largo G. Gaslini 5, 16147 Genova, Italy.

Received 15 October 2009 ,Revised 6 January 2010 ,Accepted 19 February 2010.

References 

  1. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29:301–305
  2. Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood. 2004;103:2809–2815
  3. Kile RL, Rusk HA. A case of cold urticaria with an unusual family history. JAMA. 1940;114:1067–1068
  4. Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235–248
  5. Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr. 1981;99:79–83
  6. Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004;24:194–198
  7. Martinon F, Tschopp J. Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell. 2004;117:561–574
  8. Gattorno M, Tassi S, Carta S, Delfino L, Ferlito F, Pelagatti MA, et al. Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum. 2007;56:3138–3148
  9. Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med. 2003;348:2583–2584
  10. Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004;364:1779–1785
  11. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355:581–592
  12. Caroli F, Pontillo A, D'Osualdo A, Travan L, Ceccherini I, Crovella S, et al. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford). 2007;46:473–478
  13. Ruperto N, Ravelli A, Pistorio A, Malattia C, Cavuto S, Gado-West L, et al. Cross-cultural adaptation and psychometric evaluation of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ) in 32 countries: review of the general methodology. Clin Exp Rheumatol. 2001;19(4 Suppl. 23):S1–S9
  14. Landgraf JM, Abetz L, Ware JE. The CHQ User's Manual. First ed.. Boston, MA: The Health Institute, New England Medical Center; 1996;
  15. Oliveira S, Ravelli A, Pistorio A, Castell E, Malattia C, Prieur AM, et al. Proxy-reported health-related quality of life of patients with juvenile idiopathic arthritis: the Pediatric Rheumatology International Trials Organization multinational quality of life cohort study. Arthritis Rheum. 2007;57:35–43
  16. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46:3340–3348
  17. Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142:1591–1597
  18. Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58:2443–2452
  19. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360:2416–2425

 Supported in part by by Italian Telethon (GGP09127). The authors declare no conflicts of interest.

PII: S0022-3476(10)00164-2

doi: 10.1016/j.jpeds.2010.02.040

The Journal of Pediatrics
Volume 157, Issue 2 , Pages 310-315.e1 , August 2010

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