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Ailesel Akdeniz Ateşi

Year 2011, Volume: 18 Issue: 4, 139 - 143, 30.12.2011

Abstract

Ailesel Akdeniz Ateşi tekrarlayan ateş ve serozit ataklarıyla karakterize otozomal resesif geçişli otoinflamatuar bir hastalıktır. Hastalığa 16. kromozomun kısa kolunda yer alan ve MEFV olarak isimlendirilen genin neden olduğu bilinmektedir. Bugüne kadar 150'den fazla gen mutasyonu tanımlanmış olmasına rağmen hastalığın tanısı halen klinik olarak konulmaktadır. Hastalığın en önemli ve prognozu belirleyen komplikasyonu amiloidozdur. Hem amiloidoz gelişimini engelleyen hem de atak şiddeti ve sıklığını azaltan tek tedavi ajanı kolşisindir. Bu derlemede, bu tarihi hastalıkla ilgili en son bilgileri gözden geçirmeyi amaçladık.

References

  • Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, Tezcan S. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 1998; 25: 2445-9.
  • Turkish FMF study group. Familial Mediterranean fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1-11.
  • Mansfield E, Chae JJ, Komarow HD, et al. The familial mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98: 851-9.
  • Tidow N, Chen X, Muller C,et al. Hematopoietic- specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000; 95: 1451- 5.
  • Shohat M, Halpern GJ Familial Mediterranean fever— A review. Genet Med 2011; 13: 487– 98.
  • Zadeh N, Getzug T, Grody WW Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic. Genet Med. 2011 Mar;13(3):263-9).
  • Simon Avan der Meer JW: Pathogenesis of familial p e r i o d i c f e v e r s y n d r o m e s o r h e r e d i t a r y autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol 2006; 292: 86-98.
  • Drenth JP: van der Meer JW: The inflammasome-a linebacker of innate defense. N Engl J Med 2006; 355: 730-2.
  • Chae JJ, Wood G, Masters SL, et al: The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006; 103: 9982- 7.
  • Yu JW, Wu J, Zhang Z, et al: Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ 2006; 13: 236-49.
  • Shoat M, Magal N, Shoat T et al. Phenotypegenotype correlation in familial Mediterranean fever: evidence for an assocation between Met694Val and amyloidosis. Eur J Hum Genet 1999; 7: 287-92.
  • Cazeneue C, Sarkisian T, Pecheux C et al. MEFV- Gene analysis in armenian patients with familial Mediterranean fever:diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype- genetic and thetapeutic implications. Am J Genet 1999; 65: 88-97.
  • Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet. 1998; 351: 659-64.
  • Drenth JPH, Van Der Meer JW. Hereditary periodic fever. N Engl J Med 2003; 345: 1748-57.
  • Ozen S. New interest in an old disease: Familial Mediterranean fever. Clin Exp Rheum 1999; 17: 745- 9.
  • Kastner DL. The genetic of inflammation. Hosp Prac 1998; 33: 131-46.
  • Ozdogan H, Arisoy N, Kasapcopur O, Sever L, Caliskan S, Tuzuner N, Mat C, Yazici H. Vasculitis in familial Mediterranean fever. J Rheumatol. 1997; 24: 323-7.
  • Langevitz P, Zemer D, Livneh A, et al. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 1994; 21: 1708-09.
  • Korkmaz C, Özdogan H, Kasapçopur Ö, Yazici H. Acute phase response in familial Mediterranean fever Ann Rheum Dis 2002; 61: 79-81.
  • Kisacik B, Kalyoncu U, Erol MF, Karadag O, Yildiz M, Akdogan A, Kaptanoglu B, et al. Accurate diagnosis of acute abdomen in FMF and acute appendicitis patients: how can we use procalcitonin? Clin Rheumatol 2007; 26: 2059-62.
  • Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879 –1885.
  • Ozçakar ZB, Yalçýnkaya F, Cakar N, Acar B, Bilgiç AE, Uncu N, Kara N, et al. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr. 2011; 170(8):1055-7.
  • Fonnesu C, Cerquaglia C, Giovinale M, Curigliano V, Verrecchia E, de Socio G, La Regina M, Gasbarrini G, Manna R. Familial Mediterranean Fever: a review for clinical management. Joint Bone Spine 2009; 76: 227-33.
  • Sampaio I, Marques JG. Periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases. Acta Med Port. 2011; 24: 37-42.
  • Herlin T, Sİrensen N, Veirum J. Hereditary periodical fever syndromes. Ugeskr Laeger 2011; 173: 968-73.
  • Goldfinger SE. Colchicine for familial Mediterranean fever. N Eng J Med 1972; 287: 1302
  • Mitroulis I, Papadopoulos VP, Konstantinidis T, Ritis K. Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. Neth J Med. 2008; 66: 489-91.
  • Tunca M, Tankurt E, Akbaylar H, et al. The efficacy of interfron alpha on colchicine - resistant familial Mediterranean fever attacks: A pilot study. Br J Rheumatol 1997; 36: 1005-8.
  • Tweezer-Zaks N, Rabinovich E, Lidar M, Livneh A. Interferon-alpha as a treatment modality for colchicine- resistant familial Mediterranean fever. J Rheumatol. 2008; 35: 1362-5.
  • Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006; 24: 99-103.
  • Erken E, Özer HT, Bozkurt B, et al. Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion. Joint Bone Spine 2008; 75: 370-2.
  • Sayarlýoglu H, Erkoc R, Sayarlýoglu M, ve ark. Successful treatment of nephrotic syndrome due to FMF amiyloidosis with azathioprine: report of three Turkish cases. Rheumatol Int 2006; 27: 197-9.
Year 2011, Volume: 18 Issue: 4, 139 - 143, 30.12.2011

Abstract

References

  • Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, Tezcan S. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 1998; 25: 2445-9.
  • Turkish FMF study group. Familial Mediterranean fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1-11.
  • Mansfield E, Chae JJ, Komarow HD, et al. The familial mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98: 851-9.
  • Tidow N, Chen X, Muller C,et al. Hematopoietic- specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000; 95: 1451- 5.
  • Shohat M, Halpern GJ Familial Mediterranean fever— A review. Genet Med 2011; 13: 487– 98.
  • Zadeh N, Getzug T, Grody WW Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic. Genet Med. 2011 Mar;13(3):263-9).
  • Simon Avan der Meer JW: Pathogenesis of familial p e r i o d i c f e v e r s y n d r o m e s o r h e r e d i t a r y autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol 2006; 292: 86-98.
  • Drenth JP: van der Meer JW: The inflammasome-a linebacker of innate defense. N Engl J Med 2006; 355: 730-2.
  • Chae JJ, Wood G, Masters SL, et al: The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 2006; 103: 9982- 7.
  • Yu JW, Wu J, Zhang Z, et al: Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ 2006; 13: 236-49.
  • Shoat M, Magal N, Shoat T et al. Phenotypegenotype correlation in familial Mediterranean fever: evidence for an assocation between Met694Val and amyloidosis. Eur J Hum Genet 1999; 7: 287-92.
  • Cazeneue C, Sarkisian T, Pecheux C et al. MEFV- Gene analysis in armenian patients with familial Mediterranean fever:diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype- genetic and thetapeutic implications. Am J Genet 1999; 65: 88-97.
  • Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet. 1998; 351: 659-64.
  • Drenth JPH, Van Der Meer JW. Hereditary periodic fever. N Engl J Med 2003; 345: 1748-57.
  • Ozen S. New interest in an old disease: Familial Mediterranean fever. Clin Exp Rheum 1999; 17: 745- 9.
  • Kastner DL. The genetic of inflammation. Hosp Prac 1998; 33: 131-46.
  • Ozdogan H, Arisoy N, Kasapcopur O, Sever L, Caliskan S, Tuzuner N, Mat C, Yazici H. Vasculitis in familial Mediterranean fever. J Rheumatol. 1997; 24: 323-7.
  • Langevitz P, Zemer D, Livneh A, et al. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 1994; 21: 1708-09.
  • Korkmaz C, Özdogan H, Kasapçopur Ö, Yazici H. Acute phase response in familial Mediterranean fever Ann Rheum Dis 2002; 61: 79-81.
  • Kisacik B, Kalyoncu U, Erol MF, Karadag O, Yildiz M, Akdogan A, Kaptanoglu B, et al. Accurate diagnosis of acute abdomen in FMF and acute appendicitis patients: how can we use procalcitonin? Clin Rheumatol 2007; 26: 2059-62.
  • Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879 –1885.
  • Ozçakar ZB, Yalçýnkaya F, Cakar N, Acar B, Bilgiç AE, Uncu N, Kara N, et al. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr. 2011; 170(8):1055-7.
  • Fonnesu C, Cerquaglia C, Giovinale M, Curigliano V, Verrecchia E, de Socio G, La Regina M, Gasbarrini G, Manna R. Familial Mediterranean Fever: a review for clinical management. Joint Bone Spine 2009; 76: 227-33.
  • Sampaio I, Marques JG. Periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases. Acta Med Port. 2011; 24: 37-42.
  • Herlin T, Sİrensen N, Veirum J. Hereditary periodical fever syndromes. Ugeskr Laeger 2011; 173: 968-73.
  • Goldfinger SE. Colchicine for familial Mediterranean fever. N Eng J Med 1972; 287: 1302
  • Mitroulis I, Papadopoulos VP, Konstantinidis T, Ritis K. Anakinra suppresses familial Mediterranean fever crises in a colchicine-resistant patient. Neth J Med. 2008; 66: 489-91.
  • Tunca M, Tankurt E, Akbaylar H, et al. The efficacy of interfron alpha on colchicine - resistant familial Mediterranean fever attacks: A pilot study. Br J Rheumatol 1997; 36: 1005-8.
  • Tweezer-Zaks N, Rabinovich E, Lidar M, Livneh A. Interferon-alpha as a treatment modality for colchicine- resistant familial Mediterranean fever. J Rheumatol. 2008; 35: 1362-5.
  • Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006; 24: 99-103.
  • Erken E, Özer HT, Bozkurt B, et al. Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion. Joint Bone Spine 2008; 75: 370-2.
  • Sayarlýoglu H, Erkoc R, Sayarlýoglu M, ve ark. Successful treatment of nephrotic syndrome due to FMF amiyloidosis with azathioprine: report of three Turkish cases. Rheumatol Int 2006; 27: 197-9.
There are 32 citations in total.

Details

Primary Language English
Journal Section Reviews
Authors

Yunus Ugan

Fatih Ermiş

Publication Date December 30, 2011
Submission Date June 16, 2011
Published in Issue Year 2011 Volume: 18 Issue: 4

Cite

Vancouver Ugan Y, Ermiş F. Ailesel Akdeniz Ateşi. Med J SDU. 2011;18(4):139-43.

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