Ailesel Akdeniz Ateşi ve diğer otoenflamatuar hastalıklar Derleme

Yıl 2006, Cilt: 41 Sayı: 1, 9 - 17, 01.03.2006

Özgür Kasapçopur Nil Arısoy

Öz

hiperimmünglobulin D sendromu ve kriyoprinopatilerin klinik özellikleri, tanısal ve tedavi yaklaşımları gözden geçirilecektir

Anahtar Kelimeler

ailesel akdeniz ateşi, otoenflamatuar hastalıklar

Familial Mediterranean Fever and other hereditary auto inflammatory diseases Review

Öz

The hereditary auto inflammatory diseases are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation This review focuses mainly on a subset of these illnesses the hereditary auto inflammatory diseases which include Familial Mediterranean Fever the tumor necrosis factor receptor associated periodic syndrome the hyperimmunoglobulinemia D with periodic fever syndrome and cryopyrin associated periodic syndromes This review elucidates how recent advances have impacted diagnosis pathogenesis and treatment Key words: familial mediterranean fever hereditary autoinflammatory diseases

Anahtar Kelimeler

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Kaynakça

• Tunca M, Ben-Chetrit E. Familial Mediterranean fever. Clin Exp Rheumatol 2003: 21: S49- 52.
• Özen S. Familial Mediterranean Fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449- 53.
• Ben-Chetrit, Levy M. Familial Mediterranean Fever. Lancet 1998; 351: 659- 64.
• Livneh A, Langevitz P. Diagnostic and treatment concerns in Familial Mediterranean Fever. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 477- 98.
• Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW (eds). Arthritis and Allied Conditions. 15th ed. Philadelphia: Lippincott, Williams and Wilkins, 2005: 1411- 61.
• Turkish FMF study group. Familial Mediterranean Fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1- 11.
• Ozen S, Karaaslan Y, Ozdemir O, et al, S. Prevalence of juvenile chronic arthritis and Familial Mediterranean Fever in Turkey: a field study. J Rheumatol 1998; 25: 2445- 9. 17
• Türk Pediatri Arşivi 2006; 41: 9- 17
• Tunca M, Ben-Chetrit E. Familial Mediterranean fever. Clin Exp Rheumatol 2003: 21: S49- 52.
• Özen S. Familial Mediterranean Fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449- 53.
• Ben-Chetrit, Levy M. Familial Mediterranean Fever. Lancet 1998; 351: 659- 64.
• Livneh A, Langevitz P. Diagnostic and treatment concerns in Familial Mediterranean Fever. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 477- 98.
• Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW (eds). Arthritis and Allied Conditions. 15th ed. Philadelphia: Lippincott, Williams and Wilkins, 2005: 1411- 61.
• Turkish FMF study group. Familial Mediterranean Fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1- 11.
• Ozen S, Karaaslan Y, Ozdemir O, et al, S. Prevalence of juvenile chronic arthritis and Familial Mediterranean Fever in Turkey: a field study. J Rheumatol 1998; 25: 2445- 9.
• The French Consortium. A candidate gene for FMF. Am J Hum Genet 1996; 59: 603- 12.
• The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever. Cell 1997; 90: 797- 807.
• Mor A, Gal R, Livneh A. Abdominal and digestive system associations of Familial Mediterranean Fever. Am J Gastroenterol. 2003; 98: 2594- 604.
• Özdoğan H, Arısoy N, Kasapçopur O, et al. Vasculitis in Familial Mediteranean Fever. J Rheumatol 1997; 24: 323-7.
• Ince E, Cakar N, Tekin M, et al. Arthritis in children with Familial Mediterranean Fever. Rheumatol Int. 2002; 21: 213- 7.
• Arısoy N, Kasapçopur Ö, Sever L, Çalışkan S, Yazıcı H, Özdoğan H. The clinical features of chilhood familial Mediterranean Fever in Turkey. In: Sohar E, Gafni J, Pras M, (eds). Familial Mediterranean Fever. London and Tel Aviv Freund Publishing House Ltd, 1997; 169- 72.
• Langevitz P, Zemer D, Livneh A, Pras M. Protracted febrile myalgia in patients with Familial Mediterranean Fever. J Rheumatol 1992; 21: 1708- 9.
• Korkmaz C, Özdoğan H, Kasapçopur Ö, Yazıcı H. Acute phase response in Familial Mediterranean Fever. Ann Rheum Dis 2002; 6: 79- 81.
• Akkuş Ş, Çalışkan S, Kasapçopur Ö.Tubular functions in Familial Mediterranean Fever. Turkish J Pediatr 2002; 44: 317- 20.
• Livneh A, Langevitz P, Zemer D, et al. Criteria for diagnosis of Familial Mediterranean Fever. Arth Rhem 1997; 40: 1879- 85.
• Pras E, Livneh A, Balow JE, et al. Clinical differences between north African Jews and Iraqi Jews with Familial Mediterranean Fever. Am J Med Genet 1998; 75: 216- 9. Özkan E, Okur Ö, Ekmekci A, Özcan R, Tağ T. A new approach to the treatment of periodic fever. Med Bull Istanbul 1972; 5: 44- 9. Goldfinger SE. Colchicine for Familial Mediterranean Fever. N Eng J Med 1972; 287: 1302.
• Ben-Chetrit E, Levy M. Colchicine 1998 Update. Semin Arthritis Rheumatism 1998; 28: 48- 56.
• Duzova A, Bakkaloglu A, Besbas N, et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol. 2003; 21: 509- 14. 8.
• Stojanov S, Kastner DL. Familial autoinflammatory diseases:
• genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586- 99. 9.
• Galeazzi M, Gasbarrini G, Ghirardello A, et al. Autoinflam
• matory syndromes. Clin Exp Rheumatol 2006; 24: S79- 85.
• Tunca M, Ben-Chetrit E. Familial Mediterranean fever. Clin Exp Rheumatol 2003: 21: S49- 52. 11. Özen S. Familial Mediterranean Fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449- 53.
• Ben-Chetrit, Levy M. Familial Mediterranean Fever. Lancet 1998; 351: 659- 64.
• Livneh A, Langevitz P. Diagnostic and treatment concerns in Familial Mediterranean Fever. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 477- 98.
• Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW (eds). Arthritis and Allied Conditions. 15th ed. Philadelphia: Lippincott, Williams and Wilkins, 2005: 1411- 61.
• Turkish FMF study group. Familial Mediterranean Fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1- 11.
• Ozen S, Karaaslan Y, Ozdemir O, et al, S. Prevalence of juvenile chronic arthritis and Familial Mediterranean Fever in Turkey: a field study. J Rheumatol 1998; 25: 2445- 9.
• The French Consortium. A candidate gene for FMF. Am J Hum Genet 1996; 59: 603- 12.
• The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever. Cell 1997; 90: 797- 807.
• Mor A, Gal R, Livneh A. Abdominal and digestive system associations of Familial Mediterranean Fever. Am J Gastroenterol. 2003; 98: 2594- 604.
• Özdoğan H, Arısoy N, Kasapçopur O, et al. Vasculitis in Familial Mediteranean Fever. J Rheumatol 1997; 24: 323-7.
• Ince E, Cakar N, Tekin M, et al. Arthritis in children with Familial Mediterranean Fever. Rheumatol Int. 2002; 21: 213- 7.
• Arısoy N, Kasapçopur Ö, Sever L, Çalışkan S, Yazıcı H, Özdoğan H. The clinical features of chilhood familial Mediterranean Fever in Turkey. In: Sohar E, Gafni J, Pras M, (eds). Familial Mediterranean Fever. London and Tel Aviv Freund Publishing House Ltd, 1997; 169- 72.
• Langevitz P, Zemer D, Livneh A, Pras M. Protracted febrile myalgia in patients with Familial Mediterranean Fever. J Rheumatol 1992; 21: 1708- 9.
• Korkmaz C, Özdoğan H, Kasapçopur Ö, Yazıcı H. Acute phase response in Familial Mediterranean Fever. Ann Rheum Dis 2002; 6: 79- 81.
• Akkuş Ş, Çalışkan S, Kasapçopur Ö.Tubular functions in Familial Mediterranean Fever. Turkish J Pediatr 2002; 44: 317- 20.
• Livneh A, Langevitz P, Zemer D, et al. Criteria for diagnosis of Familial Mediterranean Fever. Arth Rhem 1997; 40: 1879- 85.
• Pras E, Livneh A, Balow JE, et al. Clinical differences between north African Jews and Iraqi Jews with Familial Mediterranean Fever. Am J Med Genet 1998; 75: 216- 9. Özkan E, Okur Ö, Ekmekci A, Özcan R, Tağ T. A new approach to the treatment of periodic fever. Med Bull Istanbul 1972; 5: 44- 9. Goldfinger SE. Colchicine for Familial Mediterranean Fever. N Eng J Med 1972; 287: 1302.
• Ben-Chetrit E, Levy M. Colchicine 1998 Update. Semin Arthritis Rheumatism 1998; 28: 48- 56.
• Duzova A, Bakkaloglu A, Besbas N, et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol. 2003; 21: 509- 14. 8.
• Stojanov S, Kastner DL. Familial autoinflammatory diseases:
• genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586- 99. 9.
• Galeazzi M, Gasbarrini G, Ghirardello A, et al. Autoinflam
• matory syndromes. Clin Exp Rheumatol 2006; 24: S79- 85.
• Tunca M, Ben-Chetrit E. Familial Mediterranean fever. Clin Exp Rheumatol 2003: 21: S49- 52.
• Özen S. Familial Mediterranean Fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449- 53.
• Ben-Chetrit, Levy M. Familial Mediterranean Fever. Lancet 1998; 351: 659- 64.
• Livneh A, Langevitz P. Diagnostic and treatment concerns in Familial Mediterranean Fever. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 477- 98.
• Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW (eds). Arthritis and Allied Conditions. 15th ed. Philadelphia: Lippincott, Williams and Wilkins, 2005: 1411- 61.
• Turkish FMF study group. Familial Mediterranean Fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1- 11.
• Ozen S, Karaaslan Y, Ozdemir O, et al, S. Prevalence of juvenile chronic arthritis and Familial Mediterranean Fever in Turkey: a field study. J Rheumatol 1998; 25: 2445- 9.
• The French Consortium. A candidate gene for FMF. Am J Hum Genet 1996; 59: 603- 12.
• The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever. Cell 1997; 90: 797- 807.
• Mor A, Gal R, Livneh A. Abdominal and digestive system associations of Familial Mediterranean Fever. Am J Gastroenterol. 2003; 98: 2594- 604.
• Özdoğan H, Arısoy N, Kasapçopur O, et al. Vasculitis in Familial Mediteranean Fever. J Rheumatol 1997; 24: 323-7.
• Ince E, Cakar N, Tekin M, et al. Arthritis in children with Familial Mediterranean Fever. Rheumatol Int. 2002; 21: 213- 7.
• Arısoy N, Kasapçopur Ö, Sever L, Çalışkan S, Yazıcı H, Özdoğan H. The clinical features of chilhood familial Mediterranean Fever in Turkey. In: Sohar E, Gafni J, Pras M, (eds). Familial Mediterranean Fever. London and Tel Aviv Freund Publishing House Ltd, 1997; 169- 72.
• Langevitz P, Zemer D, Livneh A, Pras M. Protracted febrile myalgia in patients with Familial Mediterranean Fever. J Rheumatol 1992; 21: 1708- 9.
• Korkmaz C, Özdoğan H, Kasapçopur Ö, Yazıcı H. Acute phase response in Familial Mediterranean Fever. Ann Rheum Dis 2002; 6: 79- 81.
• Akkuş Ş, Çalışkan S, Kasapçopur Ö.Tubular functions in Familial Mediterranean Fever. Turkish J Pediatr 2002; 44: 317- 20.
• Livneh A, Langevitz P, Zemer D, et al. Criteria for diagnosis of Familial Mediterranean Fever. Arth Rhem 1997; 40: 1879- 85.
• Pras E, Livneh A, Balow JE, et al. Clinical differences between north African Jews and Iraqi Jews with Familial Mediterranean Fever. Am J Med Genet 1998; 75: 216- 9. Özkan E, Okur Ö, Ekmekci A, Özcan R, Tağ T. A new approach to the treatment of periodic fever. Med Bull Istanbul 1972; 5: 44- 9. Goldfinger SE. Colchicine for Familial Mediterranean Fever. N Eng J Med 1972; 287: 1302.
• Ben-Chetrit E, Levy M. Colchicine 1998 Update. Semin Arthritis Rheumatism 1998; 28: 48- 56.
• Duzova A, Bakkaloglu A, Besbas N, et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol. 2003; 21: 509- 14.
• Erken yaş başlangıçlı olarak yineleyen ateş atakları
• Üst solunum yolu enfeksiyonu olmasızın oluşan bulgular
• (aşağıdakilerden herhangi birisi) a. b. c. Farenjit
• Siklik nötropeni ve diğer kalıtsal periyodik ateşlerin dışlanması
• Atak arasında tamamı ile sağlıklı çocuklar
• Normal sınırlarda büyüme ve gelişme
• İstanbul Üniversitesi, Cerrahpaşa Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı
• Tunca M, Ben-Chetrit E. Familial Mediterranean fever. Clin Exp Rheumatol 2003: 21: S49- 52.
• Özen S. Familial Mediterranean Fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449- 53.
• Ben-Chetrit, Levy M. Familial Mediterranean Fever. Lancet 1998; 351: 659- 64.
• Livneh A, Langevitz P. Diagnostic and treatment concerns in Familial Mediterranean Fever. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 477- 98.
• Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW (eds). Arthritis and Allied Conditions. 15th ed. Philadelphia: Lippincott, Williams and Wilkins, 2005: 1411- 61.
• Turkish FMF study group. Familial Mediterranean Fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1- 11.
• Ozen S, Karaaslan Y, Ozdemir O, et al, S. Prevalence of juvenile chronic arthritis and Familial Mediterranean Fever in Turkey: a field study. J Rheumatol 1998; 25: 2445- 9.
• The French Consortium. A candidate gene for FMF. Am J Hum Genet 1996; 59: 603- 12.
• The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever. Cell 1997; 90: 797- 807.
• Mor A, Gal R, Livneh A. Abdominal and digestive system associations of Familial Mediterranean Fever. Am J Gastroenterol. 2003; 98: 2594- 604.
• Özdoğan H, Arısoy N, Kasapçopur O, et al. Vasculitis in Familial Mediteranean Fever. J Rheumatol 1997; 24: 323-7.
• Ince E, Cakar N, Tekin M, et al. Arthritis in children with Familial Mediterranean Fever. Rheumatol Int. 2002; 21: 213- 7.
• Arısoy N, Kasapçopur Ö, Sever L, Çalışkan S, Yazıcı H, Özdoğan H. The clinical features of chilhood familial Mediterranean Fever in Turkey. In: Sohar E, Gafni J, Pras M, (eds). Familial Mediterranean Fever. London and Tel Aviv Freund Publishing House Ltd, 1997; 169- 72.
• Langevitz P, Zemer D, Livneh A, Pras M. Protracted febrile myalgia in patients with Familial Mediterranean Fever. J Rheumatol 1992; 21: 1708- 9.
• Korkmaz C, Özdoğan H, Kasapçopur Ö, Yazıcı H. Acute phase response in Familial Mediterranean Fever. Ann Rheum Dis 2002; 6: 79- 81.
• Akkuş Ş, Çalışkan S, Kasapçopur Ö.Tubular functions in Familial Mediterranean Fever. Turkish J Pediatr 2002; 44: 317- 20.
• Livneh A, Langevitz P, Zemer D, et al. Criteria for diagnosis of Familial Mediterranean Fever. Arth Rhem 1997; 40: 1879- 85.
• Pras E, Livneh A, Balow JE, et al. Clinical differences between north African Jews and Iraqi Jews with Familial Mediterranean Fever. Am J Med Genet 1998; 75: 216- 9. Özkan E, Okur Ö, Ekmekci A, Özcan R, Tağ T. A new approach to the treatment of periodic fever. Med Bull Istanbul 1972; 5: 44- 9. Goldfinger SE. Colchicine for Familial Mediterranean Fever. N Eng J Med 1972; 287: 1302.
• Ben-Chetrit E, Levy M. Colchicine 1998 Update. Semin Arthritis Rheumatism 1998; 28: 48- 56.
• Duzova A, Bakkaloglu A, Besbas N, et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol. 2003; 21: 509- 14.