Ailesel Akdeniz Ateşi ve diğer otoenflamatuar hastalıklar Derleme

Year 2006, Volume: 41 Issue: 1, 9 - 17, 01.03.2006

Özgür Kasapçopur Nil Arısoy

https://izlik.org/JA26PK57DC

Abstract

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

Keywords

ailesel akdeniz ateşi , otoenflamatuar hastalıklar

Familial Mediterranean Fever and other hereditary auto inflammatory diseases Review

https://izlik.org/JA26PK57DC

Abstract

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

Keywords

-

References

• 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.