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Case Report

Nephrotic Syndrome and AA Amyloidosis Revealing Adult-Onset Cryopyrin-Associated Periodic Syndrome

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Pages 738-741 | Received 05 Feb 2013, Accepted 19 Mar 2013, Published online: 07 May 2013

REFERENCES

  • Neven B, Prieur AM, Quartier dit Maire P. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol. 2008;4:481–489.
  • Henderson C, Goldbach-Mansky R. Monogenic auto inflammatory diseases: new insights into clinical aspects and pathogenesis. Curr Opin Rheumatol. 2010;22:567–578.
  • Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13:123–131.
  • Dodé C, Le Dû N, Cuisset LNew mutations of CIAS1that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70:1498–1506.
  • Kümmerle-Deschner JB, Tyrrell PN, Reess FRisk factors for severe Muckle-Wells syndrome. Arthritis Rheum. 2010;62:3783–3791.
  • Aksentijevich I, Nowak M, Mallah MDe 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 auto inflammatory diseases. Arthritis Rheum. 2002;46:3340–3348.
  • Aksentijevich I, Putnam CD, Remmers EFThe clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56:1273–1285.
  • Feldmann J, Prieur AM, Quartier PChronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71:198–203.
  • Aróstegui JI, Aldea A, Modesto CClinical and genetic heterogeneity among Spanish patients with recurrent auto inflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. Arthritis Rheum. 2004;50:4045–4050.
  • Aróstegui JI. Pathophysiological mechanisms underlying cryopyrin-associated periodic syndromes: genetic and molecular basis and the inflammasome). Med Clin (Barc). 2011;136(Suppl. 1):22–28.
  • Granel B, Philip N, Serratrice JCIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. Dermatology. 2003;206:257–259.
  • Kuemmerle-Deschner JB, Lohse P, Koetter INLRP3 E311K mutation in a large family with Muckle-Wells syndrome–description of a heterogeneous phenotype and response to treatment. Arthritis Res Ther. 2011;13:R196.
  • Leslie KS, Lachmann HJ, Bruning EPhenotype, genotype, and sustained response to anakinra in 22 patients with auto inflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142:1591–1597.
  • Lachmann HJ, Goodman HJ, Gilbertson JANatural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007;356:2361–2371.
  • Vilaysane A, Chun J, Seamone METhe NLRP3 inflammasome promotes renal inflammation and contributes to CKD. J Am Soc Nephrol. 2010;21:1732–1744.
  • Neven B, Marvillet I, Terrada CLong-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010;62:258–267.
  • Sibley CH, Plass N, Snow JSustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes. Arthritis Rheum. 2012;64:2375–2386.
  • Yang BB, Baughman S, Sullivan JT. Pharmacokinetics of anakinra in subjects with different levels of renal function. Clin Pharmacol Ther. 2003;74:85–94.
  • Kaiser C, Knight A, Nordström DInjection-site reactions upon Kineret (anakinra) administration: experiences and explanations. Rheumatol Int. 2012;32:295–299.
  • Direz G, Noël N, Guyot C, Toupance O, Salmon JH, Eschard JP. Efficacy but side effects of anakinra therapy for chronic refractory gout in a renal transplant recipient with preterminal chronic renal failure. Joint Bone Spine. 2012;79:631.
  • Caorsi R, Federici S, Gattorno M. Biologic drugs in auto inflammatory syndromes. Autoimmun Rev. 2012;12:81–86.
  • Ter Haar N, Lachmann H, Ozen STreatment of auto inflammatory diseases: results from the Euro fever registry and a literature review. Ann Rheum Dis. 2013;72:678–685.
  • Lovell DJ, Bowyer SL, Solinger AM. Interleukin-1 blockade by anakinra improves clinical symptoms in patients with neonatal-onset multisystem inflammatory disease. Arthritis Rheum. 2005;52:1283–1286.

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