medigraphic.com
ISSN 1561-2996 (Digital)
ISSN 0864-0289 (Impreso)

2016, Número 3

<< Anterior Siguiente >>

Rev Cubana Hematol Inmunol Hemoter 2016; 32 (3)


Síndromes periódicos asociados a criopirina: etiopatogenia, características clínicas, diagnóstico y tratamiento

Sánchez SM, Marsán SV, Pino BD, Díaz DG, Macías AC

Idioma: Español
Referencias bibliográficas: 83
Paginas: 325-339
Archivo PDF: 121.97 Kb.


RESUMEN

Los desórdenes autoinflamatorios monogénicos comprenden un grupo de enfermedades caracterizadas por episodios recurrentes y espontáneos de fiebre e inflamación sistémica, en ausencia de infección, autoanticuerpos o células T específicas para antígenos propios (autorreactivas). Estas condiciones se deben a mutaciones en genes que codifican para proteínas que son claves en la regulación de la respuesta inflamatoria innata y se consideran como inmunodeficiencias primarias. Las enfermedades que comprenden estos síndromes representan un espectro clínico de diferentes mutaciones, con ganancia de función, de un gen denominado NLRP3 o CIAS1 que codifica para la proteína criopirina, de ahí que estos desórdenes sean también conocidos con el nombre de criopirinopatías. Dentro de estos se encuentran los síndromes periódicos asociados a criopirina que incluyen tres enfermedades: el síndrome autoinflamatorio familiar inducido por frío; el síndrome de Muckle-Wells y el síndrome crónico, infantil, neurológico, cutáneo y articular. Clínicamente se caracterizan por rash tipo urticariano, fiebre periódica, inflamación a nivel del sistema nervioso central, artropatía, manifestaciones oculares y riesgo de amiloidosis como complicación a largo plazo. La función clave de la criopirina en la liberación de la IL-β sugiere el criterio racional de implementar terapias anti-IL-1 para el tratamiento de estos síndromes. La administración de drogas como anakinra, canakinumab y rilonacept muestra un efecto marcado sobre el control de las manifestaciones inflamatorias, clínicas y de los parámetros de laboratorio en estos síndromes. Se describe la etiopatogenia de estas entidades, sus principales características clínicas, el diagnóstico y el tratamiento.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Cantarini L, Lopalco G, Cattalini M, Vitale A, Galeazzi M. Interleukin-1: Ariadne´s Thread in Autoinflammatory and Autoimmune Disorders. IMAJ. 2015;17(4):93-97.

  2. Meorin SM, Espada G, Rose C. Enfermedades autoinflamatorias en pediatría. Arch. Argent. Pediatr. 2013;111(3):237-43.

  3. Hinojosa-Azaola A, Alcocer- Varela J. enfermedades autoinflamatorias: una mirada a la inmunidad innata y su patología. Rev Inv Clin. 2012;64(5):477-86.

  4. Jiménez Treviño S, Ramos Polo E. De la fiebre periódica a los síndromes autoinflamatorios. Bol Pediatr. 2011;51(4):194-203.

  5. Federici S, Caorsi R, Gattorno M. The autoinflammatory diseases. Swiss Med Wkly. 2012;142:w13602. Doi: 10.4414/smw.2012.13602.

  6. Hausmann JS, Dedeoglu F. Autoinflammatory diseases in pediatrics. Dermatol Clin. 2013;31(3):481-94. doi: 10.1016/j.det.2013.04.003.

  7. Lachmann HJ. Autoinflammatory syndromes as causes of fever of unknown Origin. Clin Med. 2015;15(3):295-8.

  8. Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Koné-Paut I, et al. An international registry on autoinflammatory diseases: The Eurofever experience. Ann Rheum Dis. 2012;71(7):1177.82.

  9. Lery R, Gerard L, Kuemmerle-Desher J, Lachmann HJ, Koné-Paut I, Cantarini L, et al. Phenoptypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis 2015 Nov;74(11):2043-9. doi:10.1136/annrheumdis-2013-204991

  10. Zeft A, Spalding S. Autoinflammatory síndromes: Fever is not always a sign of infection. CCJM. 2012;79(8):569-81.

  11. Abdulla MC, Aleingal J, Hawkins PN, Mohamed S. Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation. J Post Med. 2015;61(2):120-2.

  12. Bozkurt Y, Demir A, Erman B, Gül A. Unified Modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes. Comput Math Methods Med 2015;2015:893507. doi:10.1155/2015/893507.

  13. Antón J. Síndromes periódicos asociados a criopirina. Protoc diegn ter Pediatr 2014:1:211-17.

  14. Ozkurede VU, Franchi L. Immunology in clinical review series; focus on autoimmflamatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol. 2012;167(3):382-90.

  15. Mankan AK, Kubarenko A, Hornung V. Immunology in clinic review series; focus on autoinflammatory diseases. Inflammasomes: Mechanisms of activation. Clin Exp Immunol. 2011;167(3):369-81.

  16. Jéru I, Amselen S. [Inflammasome and interleukin-1]. Rev Med Intern. 2011;32(4):218-24. doi: 10.1016/J.revmed.2010.02.013.

  17. Lamkanfi M, Dixit VM. Inflammasomes: guardians of cytosolic sanctity. Immunol Rev 2009;227(1):95-105. doi: 10. 1111/J. 1600-065X.2008.00730.X.

  18. Heymann MC, Rösen-Wolff A. Contribution of the inflammasomes to autoinflammatory diseases and recent mouse models as research tools. Clin Immunol. 2013;147(3):175-84. doi: 10.1016/J. Clin.2013.01.006.

  19. Beer HD, Contassot E, French LE. The inflammasomes in autoinflammatory diseases with skin involvement. J Invest Dermatol. 2014;134(7):1805-10. doi: 10.1038/jid.2014.76.

  20. Dinarello CA. IL-1: discoveries, controversies and future directions. Eur J Immunol. 2010;40(3):599-606.

  21. Hernández López JC, Urcuqui Inchima S. Activación y regulación del inflamasoma NLRP3 en las enfermedades infecciosas. IATREIA. 2012;25(4):380-7.

  22. Peñaranda Panda E, Spirel Bejerano N, Restrepo JF, Rondón-Herrera F, Millán A, Gamarra Iglesias A. Enfermedades autoinflamatorias. Rev Colomb Reumatol. 2010;17(2):86-95.

  23. Martiron F, Mayor A, Tschopp J. The inflammasomes: guardians of the body. Annu Rev Immunol. 2009;27:229-65.

  24. Martiron F, Tschopp J. inflammatory caspases and inflammasomes master switches of inflammation. Cell Death Differ. 2007;14(1):10-22.

  25. Martiron F, Gaide O, Pétrilli V, Mayor A, Tschopp J. NALP inflammasomes: a central role in innate immunity. Semin Immunopathol. 2007;29(3):213-29.

  26. Jesus AA, Goldbach-Mansky R. IL-1 blockade in autoinflammmatory syndromes. Annu Rev Med. 2014;65:223-44. doi: 10.1146/annurev-med-061512-150641.

  27. González de Dios J. Síndromes periódicos asociados a criopirina y canakinumab. 2011. [citado 2015 Ago 10]. Disponible en: http://www.pediatriabasadaenpruebas.com/2011/08/sindromes-periodicosasociados. html

  28. Aróstegui JI. Phatophysiological mechanisms underlying cryopirin associated periodic syndromes: genetic and molecular basis on the inflammasome. Med Clin (Barc). 2011;136 Suppl 1:22-8. Doi: 10.1016/s0025.7753(11)70005-7.

  29. Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Russ F, Ummenhofer K, et al. NLRP3 E3 11k mutations in a large family with Muckle-Wells syndrome description of a heterogeneous phenotype and Response to treatment. Arthritis Res Ther. 2011;13(6):R 196.doi: 10.1186/ar 3526.

  30. Saito MK. CAPS: Cryopyrin-associated periodic Syndrome. Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):369-77.

  31. Hernández P. Enfermedades Autoinflamatorias (EAI) en Pediatría. Rev Med Clin Condes. 2012;23(4):473-83.

  32. Hawkins PN, Lachmann HJ, Aganna E, Mc Dermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthitis Rheum. 2004;50:607-12.

  33. Farasat F, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008;144(3):392-402.

  34. Yokota S, Kikuchi M, Nozawa T, Kizawa T, Kanetaka T, Miyamae T, et al. An approach to the patients with cryopyrin-associated periodic syndrome (CAPS): A new biologic response modifier, canakinumab. Nihon Rinsho Meneki Gakkai Kaishi. 2012;35(1):23-9.

  35. Rigante D, Cantarini L. Monogenic autoinflammatory syndrome at a dermatological level. Arch Dermatol Res. 2011;303:375-80. doi: 10.1007/s00403- 011-1134.z

  36. Hoffman HM, Wanderer AA, boride DH. Familial cold autoinflammatory syndrome: Phenotype and genotype of autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615-20.

  37. Shpall RL, Jeffer EWB, Hoffman HM. A case familial cold autoiflammatory syndrome confirmed by the presence of a CIAS1 mutation. Br J Dermatol. 2004;150:1028-54.

  38. Davis Bk, Went H, Ting JP. The inflammasome NLRS in Immunity, Inflammation and Associated Diseases. Annu Rev Immunol. 2011;29:707-39.

  39. Hedrich CM, Bruck N, Paul D, Hahn G, Gahr M, Rosen-Wolff A. "Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-years-old boy: clinical course and functional studies. Rheumatol Int 2012;32(9):2629-36. doi: 10.1007/s00296- 011-2019-3.

  40. Calvo Peñadés I, López Montesinos B, Marco Puche A. Síndrome de Muckle-Wells y síndrome autoinflamatorio familiar inducido por frío. Med Clin (Barc). 2011;136 (Supl 1):16-21.

  41. Jesus AA, Oliveira JB, Hilário MO, Terreri MT, Fujihira E, Watase M, et al. Pediatric hereditary autoinflammatory syndromes. J Pediatr (Rio J). 2010;86 (5):353-66. doi:10.2223/JPED.2015

  42. Muckle TJ, Wells M. Urticaria, deafness, and amiloidosis: a new heredo-familial syndrome. QIM. 1962;31:235-48.

  43. Laquerre T, Viteoq O, Angier-Veber P, Goldenberg A, Patoz P, Frebourg T. A criopyrin-associated periodic syndrome with joint destruction. Rheumatol. 2007;46:700-16.

  44. Haas N, Kuster W, Zuberbier T, Henz BM. Clinical and laboratory investigations. Muckle-Wells syndrome: clinical and histological skin finding compatible with air urticaria in a large kindred. Br J Dermatol. 2004;151:99-104.

  45. Neven B, Prieur AM, Quartier did Maire P. Cryopyrinopathies: Update on pathogenesis and treatment . Nat Clin Pract Rheumatol. 2008;4:481-9.

  46. ArósteguiJ, Yagüe J. Enfermedades autoinflamatorias sistémicas hereditarias. Parte II: síndromes periódicos asociados a criopirina, granulomatosis sistémicas pediátricas y síndrome PAPA. Med Clin (Barc). 2008;130(11):429-38.

  47. Shakeel A, Gouws P. Muckle-Wells syndrome: another couse of acute anterior uveitis. Eye. 2007;21:849-50.

  48. Aróstegui JI. Enfermedades autoinflamatorias sistémicas hereditarias. Reumatol Clin. 2011;7(1):45-50.

  49. DodeC, Le Du N, Cuisset L, Letorneur F, Berthelot JM, Vaudour G, et al. New mutation responsible for Muckle-Wells syndrome and familial cold Urticaria: a novle mutation underlies both syndromes. Am J Hum Genet. 2002;70:1498-506.

  50. Kuemmerle- Deschner JB, Wittkowski H, Tyrrell PN, Koetter I, Lohse P, Ummenhofer K, et al. Treatment of Muckle-Wells syndrome: analysis of two IL-1 blocking regimens. Arthritis Res Ther. 2013;15(3):R64.

  51. Kuemmerle- Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzoribachev N, et al. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum. 2011;63(3):840-9. doi: 10.1002/art.30149.

  52. Duront MA, Marzouk SA, Abdel Halma MR: Report of six cases with Hiperpigmented scleroderma skin lesions. Int J dermatol. 2006;45:239-44.

  53. De Sancti S, Nozzi M, Del Torto M, Scardapane A, Gaspari S, de Michele G, et al. Autoinflammatory syndrome: diagnosis and management. Italian J Pediatr. 2010;36:57.

  54. Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr. 1981;99:79-83.

  55. Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011;13(2):123-31.

  56. Calvo Rey C, Soler-Palacín P, Merino Muñoz R, Saavedra Lozano J, Antón López J, Aróstegui JI, et al. Documento de Concenso de la Sociedad de Infectología Pediátrica y la Sociedad de Reumatología Pediátrica sobre el diagnóstico diferencial y el abordaje terapéutico de la fiebre recurrente. An Pediatr (Barc). 2011;74:194.e1-194.e16.

  57. Goldbach-Mansky R. Current status of understanding the pathogenesis and management of patients withNOMID/CINCA. Curr Rheumatol Rep.2011;13(2):123-31.

  58. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence of genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID). Arthritis Rheum. 2002;46:3340-8.

  59. Padeh S. Periodic fever syndromes. Pediatr Clin North Am. 2005;52:577-609.

  60. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence of genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID). Arthritis Rheum. 2002;46:3340-8.

  61. Prieur AM. A recently recognized chronic inflammatory disease of early onset characterized by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol. 2001;19:103-6.

  62. 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;103:2809-15.

  63. Masters S, Simon A, Aksentijevich I, Kastner D. Horror autoinflammaticus: The Molecular Pathophysilogy of Autoinflammatory Diseases. Annu Rev Immnunol. 2009;27:621-68.

  64. Rigante D, Capoluongo E. The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from tne clinical scenery to laboratory investigation. Clin Chem Lab Med. 2011;49(5):783-91.

  65. Ozen S, Frenkel J, Ruperto N, Gattorno M, Eurofever Project. The Eurofever Project: toward better care for autoinflammatory diseases. Eur J Pediatr. 2011;170(4):445-52.

  66. Miyamae T. Cryopyrin - associated periodic syndromes: diagnosis and Management. Pediatr Drugs. 2012;14(2):109-17.

  67. Kastner DL, Brydges S, Hull KM. Periodic fever syndromes. En: Ochs HD, Edvard Smith CI, Puck JM, editors. Primary immunodeficiency diseases. A molecular and genetic approach. 2nd ed. Oxford: Oxford University Press;2007. p. 367-89.

  68. Kastner DL. Hereditary periodic fever syndrome. Hematology Am Soc Hematol Educ Program 2005:74-81.

  69. Rigante D. Autoinflammatory syndromes behind the scenes of recurrent fevers in children. Med Sci Monit. 2009;15:RA179-87.

  70. 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;355:581-92.

  71. Siebenhaar F, Weller K, Mlynek M, Altrichtr R, Vieira de Santos S, Mauren M, et al. Acquired cold urticaria: clinical and update on diagnosis and treatment. Clin Deramtol. 2007;32:241-5.

  72. Jiménez Treviño S, Ramos Polo E. Tratamiento de los síndromes periódicos asociados a la criopirina (CAPS). Med Clin (Barc). 2011;136(Suppl 1):29-33.

  73. Johnstone RF, Dolen WK, Hoffman HM. A large kindred with familial cold autoinflammatory syndrome. Ann Allergy Astma Immunol. 2003;90:233-7.

  74. Maksimovich L, Stinermann J, Caux F, Rovet N, Rovaghe S, Cuisset L, et al. New CIAS 1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology. 2008;47:309-10.

  75. Ter Haar N, Lachmann H, Ozen S, Woo P. Treatment of autoinflammatory Diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2012 Jun 29.

  76. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A. Neonatal-onset Multisystem inflammatory disease responsive to interleukin-1β inhibition. NEJM. 2008;355(8):591-92.

  77. Koné-Paut I, Piram M. Targeting IL-1β in CAPS (cryopyrin associated periodic syndromes): what did we learn? Autoimmun Rev. 2012;12(1):77-80.

  78. Church LD, Mc Dermott MF. Canakinumab: a human anti- IL-1β monoclonal antibody for the treatment of cryopyrin-associated periodic syndromes. Expert Rev Clin Immunol. 2010;6(6):831'41.

  79. Curran MP. Canakinumab: in patients with cryopyrin-associated periodic syndromes. Bio Drugs. 2012;26(1):53-9.

  80. Kuemmerle- Deschner JB, Ramos E, Blank N, Roesler J, Felix SO, Jung T, et al. Canakinumab (ACZ 885, a fully human IgG1 anti- IL-1β Mo Ab) induced sustained remission in pediatric patients with cryopyrin-associated periodic syndromes (CAPS). Arthritis Res Ther. 2014;13(1):R 34. doi:10.1186/ar3266.

  81. Gillespie J, Mathews R, Mc Dermott MF. Rilonacept in the management in cryopyrin-associated periodic syndromes (CAPS). J Inflamm Res. 2010;3:1-8.

  82. Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, KavanaughA, 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;58:2443-52.

  83. Gandhi C, Healy C, Wanderer AA, Hoffman HM. Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol. 2009;124:1245-50.




2020     |     www.medigraphic.com