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Erschienen in: CEN Case Reports 1/2015

01.05.2015 | Case Report

A case of cryopyrin-associated periodic syndrome with kidney transplant failure

verfasst von: Rie Imaizumi, Yasuo Ishii, Katsuyuki Miki, Shinji Kudo, Toru Murakami, Ichiro Koyama, Ichiro Nakajima, Shohei Fuchinoue, Yasushi Kawaguchi, Atsuo Taniguchi, Satoshi Teraoka

Erschienen in: CEN Case Reports | Ausgabe 1/2015

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Abstract

The cryopyrin-associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease characterized by fever, skin rash, and joint involvement with acute inflammatory response. The genetic defect involves the NLRP3 gene that encodes cryopyrin and leads to an abnormal production of interleukin-1 (IL-1). Therefore, anti-IL-1 treatment represents an effective therapy. One of the most severe manifestations of the disease is secondary amyloidosis that causes renal failure. We present a patient with CAPS who underwent renal transplantation for renal insufficiency caused by amyloidosis. The function of the transplanted kidney deteriorated because of the late administration of IL-1 receptor antagonist, anakinra. This case may indicate the importance of early initiation of anti-IL-1 treatment in CAPS patients who have undergone kidney transplantation.
Literatur
1.
Zurück zum Zitat Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I, French CAPS study group. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from 8 years of genetic analysis in France. Ann Rheum Dis. 2011;70:495–9.CrossRefPubMed Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I, French CAPS study group. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from 8 years of genetic analysis in France. Ann Rheum Dis. 2011;70:495–9.CrossRefPubMed
2.
Zurück zum Zitat Tilson H, Primatesta P, Kim D, Rauer B, Hawkins PN, Hoffman HM, Kuemmerle-Deschner J, van der Poll T, Walker UA. Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry. Orphanet J Rare Dis. 2013;8:139.CrossRefPubMedCentralPubMed Tilson H, Primatesta P, Kim D, Rauer B, Hawkins PN, Hoffman HM, Kuemmerle-Deschner J, van der Poll T, Walker UA. Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry. Orphanet J Rare Dis. 2013;8:139.CrossRefPubMedCentralPubMed
3.
Zurück zum Zitat Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13:123–31.CrossRefPubMedCentralPubMed Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13:123–31.CrossRefPubMedCentralPubMed
4.
Zurück zum Zitat Kim PW, Aksentijevich I, Colburn NT, Kastner DL. Hereditary recurrent fevers. In: Hockberg MC, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, editors. Rheumatology. Philadelphia: Elsevier; 2011. p. 1637–57.CrossRef Kim PW, Aksentijevich I, Colburn NT, Kastner DL. Hereditary recurrent fevers. In: Hockberg MC, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, editors. Rheumatology. Philadelphia: Elsevier; 2011. p. 1637–57.CrossRef
5.
Zurück zum Zitat Aksentijevich I, Putnam CC, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56:1273–85.CrossRefPubMedCentralPubMed Aksentijevich I, Putnam CC, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56:1273–85.CrossRefPubMedCentralPubMed
6.
Zurück zum Zitat Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005;17:586–99.CrossRefPubMed Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005;17:586–99.CrossRefPubMed
7.
Zurück zum Zitat Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, Roberts PF, Woo P, Grattan CE, Hawkins PN. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142:1591–7.CrossRefPubMed Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, Roberts PF, Woo P, Grattan CE, Hawkins PN. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142:1591–7.CrossRefPubMed
8.
Zurück zum Zitat Thornton BD, Hoffman HM, Bhat A, Don BR. Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. Am J Kidney Dis. 2007;49:477–81.CrossRefPubMed Thornton BD, Hoffman HM, Bhat A, Don BR. Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist. Am J Kidney Dis. 2007;49:477–81.CrossRefPubMed
9.
Zurück zum Zitat Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, Tardieu M, Prieur AM, Quartier P. Long-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;62:258–67.CrossRefPubMed Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, Tardieu M, Prieur AM, Quartier P. Long-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;62:258–67.CrossRefPubMed
10.
Zurück zum Zitat Aït-Abdesselam T, Lequerré T, Legallicier B, François A, Le Loët X, Vittecoq O. Anakinra efficacy in a Caucasian patient with renal AA amyloidosis secondary to cryopyrin-associated periodic syndrome. Jt Bone Spine. 2010;77:616–7.CrossRef Aït-Abdesselam T, Lequerré T, Legallicier B, François A, Le Loët X, Vittecoq O. Anakinra efficacy in a Caucasian patient with renal AA amyloidosis secondary to cryopyrin-associated periodic syndrome. Jt Bone Spine. 2010;77:616–7.CrossRef
11.
Zurück zum Zitat Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter C, Foell D, Benseler SM. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle–Wells syndrome. Arthritis Rheum. 2011;63:840–9.CrossRefPubMed Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter C, Foell D, Benseler SM. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle–Wells syndrome. Arthritis Rheum. 2011;63:840–9.CrossRefPubMed
12.
Zurück zum Zitat Lane T, Loeffler JM, Rowczenio DM, Gilbertson JA, Bybee A, Russell TL, Gillmore JD, Wechalekar AD, Hawkins PN, Lachmann HJ. AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum. 2013;65:1116–21.CrossRefPubMed Lane T, Loeffler JM, Rowczenio DM, Gilbertson JA, Bybee A, Russell TL, Gillmore JD, Wechalekar AD, Hawkins PN, Lachmann HJ. AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum. 2013;65:1116–21.CrossRefPubMed
13.
Zurück zum Zitat Enríquez R, Sirvent AE, Padilla S, Noguera-Pons R, Andrada E, Ardoy F, Millán I, Amorós F. Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome. Ren Fail. 2013;35:738–41.CrossRefPubMed Enríquez R, Sirvent AE, Padilla S, Noguera-Pons R, Andrada E, Ardoy F, Millán I, Amorós F. Nephrotic syndrome and AA amyloidosis revealing adult-onset cryopyrin-associated periodic syndrome. Ren Fail. 2013;35:738–41.CrossRefPubMed
14.
Zurück zum Zitat Scarpioni R, Rigante D, Cantarini L, Ricardi M, Albertazzi V, Melfa L, Lazzaro A. Renal involvement in secondary amyloidosis of Muckle–Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1β monoclonal antibody canakinumab. Clin Rheumatol. (2014) [Epub ahead of print]. Scarpioni R, Rigante D, Cantarini L, Ricardi M, Albertazzi V, Melfa L, Lazzaro A. Renal involvement in secondary amyloidosis of Muckle–Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1β monoclonal antibody canakinumab. Clin Rheumatol. (2014) [Epub ahead of print].
15.
Zurück zum Zitat Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O’Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med. 2006;355:581–92.CrossRefPubMedCentralPubMed Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O’Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. N Engl J Med. 2006;355:581–92.CrossRefPubMedCentralPubMed
16.
Zurück zum Zitat Caorsi R, Lepore L, Zulian F, Alessio M, Stabile A, Insalaco A, Finetti M, Battagliese A, Martini G, Bibalo C, Martini A, Gattorno M. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. Arthritis Res Ther. 2013;15:R33.CrossRefPubMedCentralPubMed Caorsi R, Lepore L, Zulian F, Alessio M, Stabile A, Insalaco A, Finetti M, Battagliese A, Martini G, Bibalo C, Martini A, Gattorno M. The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age. Arthritis Res Ther. 2013;15:R33.CrossRefPubMedCentralPubMed
17.
Zurück zum Zitat Kuemmerle-Deschner JB, Wittkowski H, Tyrrell PN, Koetter I, Lohse P, Ummenhofer K, Reess F, Hansmann S, Koitschev A, Deuter C, Bialkowski A, Foell D, Benseler SM. Treatment of Muckle–Wells syndrome: analysis of two IL-1-blocking regimens. Arthritis Res Ther. 2013;15:R64.CrossRefPubMedCentralPubMed Kuemmerle-Deschner JB, Wittkowski H, Tyrrell PN, Koetter I, Lohse P, Ummenhofer K, Reess F, Hansmann S, Koitschev A, Deuter C, Bialkowski A, Foell D, Benseler SM. Treatment of Muckle–Wells syndrome: analysis of two IL-1-blocking regimens. Arthritis Res Ther. 2013;15:R64.CrossRefPubMedCentralPubMed
18.
Zurück zum Zitat Pinney JH, Lachmann HJ, Sattianayagam PT, Gibbs SD, Wechalekar AD, Venner CP, Whelan CJ, Gilbertson JA, Rowczenio D, Hawkins PN, Gillmore JD. Renal transplantation in systemic amyloidosis—importance of amyloid fibril type and precursor protein abundance. Am J Transpl. 2013;13:433–41.CrossRef Pinney JH, Lachmann HJ, Sattianayagam PT, Gibbs SD, Wechalekar AD, Venner CP, Whelan CJ, Gilbertson JA, Rowczenio D, Hawkins PN, Gillmore JD. Renal transplantation in systemic amyloidosis—importance of amyloid fibril type and precursor protein abundance. Am J Transpl. 2013;13:433–41.CrossRef
19.
Zurück zum Zitat Moser C, Pohl G, Haslinger I, Knapp S, Rowczenio D, Russel T, Lachmann HJ, Lang U, Kovarik J. Successful treatment of familial Mediterranean fever with anakinra and outcome after renal transplantation. Nephrol Dial Transpl. 2009;24:676–8.CrossRef Moser C, Pohl G, Haslinger I, Knapp S, Rowczenio D, Russel T, Lachmann HJ, Lang U, Kovarik J. Successful treatment of familial Mediterranean fever with anakinra and outcome after renal transplantation. Nephrol Dial Transpl. 2009;24:676–8.CrossRef
20.
Zurück zum Zitat Tanaka F, Migita K, Honda S, Fukuda T, Mine M, Nakamura T, Yamasaki S, Ida H, Kawakami A, Origuchi T, Eguchi K. Clinical outcome and survival of secondary (AA) amyloidosis. Clin Exp Rheumatol. 2003;21:343–6.PubMed Tanaka F, Migita K, Honda S, Fukuda T, Mine M, Nakamura T, Yamasaki S, Ida H, Kawakami A, Origuchi T, Eguchi K. Clinical outcome and survival of secondary (AA) amyloidosis. Clin Exp Rheumatol. 2003;21:343–6.PubMed
21.
Zurück zum Zitat Caroli F, Pontillo A, D’Osualdo A, Travan L, Ceccherini I, Crovella S, Alessio M, Stabile A, Gattorno M, Tommasini A, Martini A, Lepore L. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology. 2007;46:473–8.CrossRefPubMed Caroli F, Pontillo A, D’Osualdo A, Travan L, Ceccherini I, Crovella S, Alessio M, Stabile A, Gattorno M, Tommasini A, Martini A, Lepore L. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology. 2007;46:473–8.CrossRefPubMed
22.
Zurück zum Zitat Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN, Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. New Engl J Med. 2009;360:2416–25.CrossRefPubMed Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN, Canakinumab in CAPS Study Group. Use of canakinumab in the cryopyrin-associated periodic syndrome. New Engl J Med. 2009;360:2416–25.CrossRefPubMed
23.
Zurück zum Zitat Yokota S, Nishikomori R, Takada H, Kikuchi M, Nozawa T, Kanetaka T, Kizawa T, Miyamae T, Mori M, Heike T, Hara T, Imagawa T. Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan. Mod Rheumatol. 2013;23:425–9.CrossRefPubMed Yokota S, Nishikomori R, Takada H, Kikuchi M, Nozawa T, Kanetaka T, Kizawa T, Miyamae T, Mori M, Heike T, Hara T, Imagawa T. Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan. Mod Rheumatol. 2013;23:425–9.CrossRefPubMed
24.
Zurück zum Zitat Kuemmerle-Deschner JB, Hachulla E, Cartwright R, Hawkins PN, Tran TA, Bader-Meunier B, Hoyer J, Gattorno M, Gul A, Smith J, Leslie KS, Jiménez S, Morell-Dubois S, Davis N, Patel N, Widmer A, Preiss R, Lachmann HJ. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis. 2011;70:2095–102.CrossRefPubMed Kuemmerle-Deschner JB, Hachulla E, Cartwright R, Hawkins PN, Tran TA, Bader-Meunier B, Hoyer J, Gattorno M, Gul A, Smith J, Leslie KS, Jiménez S, Morell-Dubois S, Davis N, Patel N, Widmer A, Preiss R, Lachmann HJ. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann Rheum Dis. 2011;70:2095–102.CrossRefPubMed
Metadaten
Titel
A case of cryopyrin-associated periodic syndrome with kidney transplant failure
verfasst von
Rie Imaizumi
Yasuo Ishii
Katsuyuki Miki
Shinji Kudo
Toru Murakami
Ichiro Koyama
Ichiro Nakajima
Shohei Fuchinoue
Yasushi Kawaguchi
Atsuo Taniguchi
Satoshi Teraoka
Publikationsdatum
01.05.2015
Verlag
Springer Japan
Erschienen in
CEN Case Reports / Ausgabe 1/2015
Elektronische ISSN: 2192-4449
DOI
https://doi.org/10.1007/s13730-014-0129-y

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