Otoinflamatuar Periyodik Ateş Sendromları

Karadağ, Şerife Gül; Aktay Ayaz, Nuray

doi:10.26650/jchild.2020.1.0005

Otoinflamatuar Periyodik Ateş Sendromları

Şerife KARADAĞ, (Sağlık Bilimleri Üniversitesi, Sağlık Bilimleri Fakültesi, Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Nuray AYAZ (İstanbul Üniversitesi, İstanbul Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Romatoloji Bilim Dalı, İstanbul, Türkiye)

Çocuk Dergisi

8 5

Yıl: 2020 Cilt: 20 Sayı: 1 Sayfa Aralığı: 27 - 32 Metin Dili: Türkçe DOI: 10.26650/jchild.2020.1.0005 İndeks Tarihi: 02-12-2020

Otoinflamatuar Periyodik Ateş Sendromları

Öz:

Otoinflamatuar periyodik ateş sendromları, bulguları çoğunlukla çocuklukçağında başlayan, tekrarlayan ateş ve inflamasyon atakları ile karakterizedoğal immün sistem bozukluğu sonucu ortaya çıkan hastalıklar grubudur.Ailevi Akdeniz ateşi (AAA) Türkiye gibi Akdeniz ülkelerinde en sık görülenperiyodik ateş sendromudur. Diğer herediter otoinflamatuar periyodik ateşsendromları nadir hastalıklar olarak sınıflandırılmaktadır. Bu derlemede;AAA, tümör nekroz faktör (TNF) reseptörü ilişkili periyodik ateş sendromu(TRAPS), mevalonat kinaz (MVK) eksikliği, kriyopirin ilişkili periyodik ateşsendromu (CAPS) ve periyodik ateş, aftöz stomatit, farenjit ve adenit(PFAPA) sendromunun klinik özellikleri, önerilen sınıflandırma kriterleri vetedavi seçenekleri değerlendirilmiştir.

Anahtar Kelime:

Autoinflammatory Periodic Fever Syndromes

Öz:

Autoinflammatory periodic fever syndromes are a group of diseases mostly presenting in childhood and characterized by recurrent fever and inflammation attacks as a result of an innate immune system activation. Familial Mediterranean fever (FMF) is the most common periodic fever syndrome in Mediterranean countries such as Turkey. Other hereditary autoinflammatory periodic fever syndromes are classified as rare diseases. In this review, the clinical features, recommended classification criteria and treatment options of FMF, tumor necrosis factor (TNF) receptorassociated periodic fever syndrome (TRAPS), mevalonate kinase (MVK) deficiency, cryopyrin-associated periodic fever syndrome (CAPS), and periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome were evaluated.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

1. Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell 2010;140(6):784-90.
2. Sag E, Bilginer Y, Ozen S. Autoinflammatory diseases with periodic fevers. Curr Rheumatol Rep 2017;19(7):41.
3. Lachmann HJ. Periodic fever syndromes. Best Pract Res Clin Rheumatol 2017;31(4):596-609.
4. Moll M, Kuemmerle-Deschner JB. Inflammasome and cytokine blocking strategies in autoinflammatory disorders. Clin Immunol 2013;147(3):242-75.
5. Ozen S. Update on the epidemiology and disease outcome of Familial Mediterranean fever. Best Pract Res Clin Rheumatol 2018;32(2):254-60.
6. Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, et al. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 1998;25(12):2445-9.
7. Ozdogan H, Ugurlu S. Familial Mediterranean fever. Presse Med 2019;48:61-76.
8. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005;84(1):1-11.
9. Kisacik B, Yildirim B, Tasliyurt T, Ozyurt H, Ozyurt B, Yuce S, et al. Increased frequency of familial Mediterranean fever in northern Turkey: a population-based study. Rheumatol Int 2009;29(11):1307-9.
10. Onen F, Sumer H, Turkay S, Akyurek O, Tunca M, Ozdogan H. Increased frequency of familial Mediterranean fever in Central Anatolia, Turkey. Clin Exp Rheumatol 2004;22(4):31-3.
11. Cakir N, Pamuk ON, Dervis E, Imeryuz N, Uslu H, Benian O, et al. The prevalences of some rheumatic diseases in western Turkey: Havsa study. Rheumatol Int 2012;32(4):895-908.
12. French FMFC. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17(1):25-31.
13. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 1997;90(4):797-807.
14. Ozen S, Bilginer Y. A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin. Nat Rev Rheumatol 2014;10(3):135-47.
15. Yasar Bilge S, Sari I, Solmaz D, Senel S, Emmungil H, Kilic L, et al. The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia. Turk J Med Sci 2019;49(2):472-7.
16. Sonmez HE, Esmeray P, Batu ED, Arici ZS, Demir S, Sag E, et al. Is age associated with disease severity and compliance to treatment in children with familial Mediterranean fever? Rheumatol Int 2019;39(1):83-7.
17. Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967;43(2):227-53.
18. Yenokyan G, Armenian HK. Triggers for attacks in familial Mediterranean fever: application of the case-crossover design. Am J Epidemiol 2012;175(10):1054-61.
19. Karadag O, Tufan A, Yazisiz V, Ureten K, Yilmaz S, Cinar M, et al. The factors considered as trigger for the attacks in patients with familial Mediterranean fever. Rheumatol Int 2013;33(4):893-7.
20. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40(10):1879-85.
21. Yalcinkaya F, Ozen S, Ozcakar ZB, Aktay N, Cakar N, Duzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology 2009;48(4):395-8.
22. Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis 2019;78(8):1025-32.
23. Twig G, Livneh A, Vivante A, Afek A, Shamiss A, Derazne E, et al. Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents. Ann Rheum Dis 2014;73(4):704-9.
24. Livneh A, Zemer D, Langevitz P, Shemer J, Sohar E, Pras M. Colchicine in the treatment of AA and AL amyloidosis. Semin Arthritis Rheum 1993;23(3):206-14.
25. Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U, et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 2007;119(2):474-83.
26. Fradkin A, Yahav J, Zemer D, Jonas A. Colchicine-induced lactose malabsorption in patients with familial Mediterranean fever. Isr J Med Sci 1995;31(10):616-20.
27. Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75(4):644-51.
28. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999;97(1):133-44.
29. Lane T, Loeffler JM, Rowczenio DM, Gilbertson JA, Bybee A, Russell TL, et al. AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum 2013;65(4):1116-21.
30. Ter Haar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013;72(5):678-85.
31. Bulua AC, Mogul DB, Aksentijevich I, Singh H, He DY, Muenz LR, et al. Efficacy of etanercept in the tumor necrosis factor receptorassociated periodic syndrome: a prospective, open-label, doseescalation study. Arthritis Rheum 2012;64(3):908-13.
32. Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2008;58(5):1516-20.
33. Gattorno M, Obici L, Cattalini M, Tormey V, Abrams K, Davis N, et al. Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study. Ann Rheum Dis 2017;76(1):173-8.
34. Mandey SH, Kuijk LM, Frenkel J, Waterham HR. A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 2006;54(11):3690-5.
35. Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G, et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology 2007;46(10):1597-600.
36. Sanchez-Manubens J, Iglesias E, Anton J. Canakinumab for the treatment of hyperimmunoglobulin D syndrome. Expert Rev Clin Immunol 2019;15(3):215-20.
37. Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, et al. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever Registry. Arthritis Rheumatol 2016;68(11):2795-805.
38. ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis 2015;74(9):1636- 44.
39. Levy R, Gerard L, Kuemmerle-Deschner J, Lachmann HJ, Kone-Paut I, Cantarini L, et al. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis 2015;74(11):2043-9.
40. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatalonset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46(12):3340-8.
41. Kilic H, Sahin S, Duman C, Adrovic A, Barut K, Turanli ET, et al. Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome. Eur J Paediatr Neurol 2019;23(3):466-72.
42. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50(2):607-12.
43. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987;110(1):43-6.
44. Brown KL, Wekell P, Osla V, Sundqvist M, Savman K, Fasth A, et al. Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. BMC Pediatr 2010;10:65.
45. Theodoropoulou K, Vanoni F, Hofer M. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: a review of the pathogenesis. Curr Rheumatol Rep 2016;18(4):18.
46. Batu ED, Batu HB. Recurrence of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome after tonsillectomy: case-based review. Rheumatol Int 2019;39(6):1099-105.
47. Tejesvi MV, Uhari M, Tapiainen T, Pirttila AM, Suokas M, Lantto U, et al. Tonsillar microbiota in children with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome. Eur J Clin Microbiol Infect Dis 2016;35(6):963-70.
48. Thomas KT, Feder HM, Jr., Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr 1999;135(1):15-21.
49. Peridis S, Pilgrim G, Koudoumnakis E, Athanasopoulos I, Houlakis M, Parpounas K. PFAPA syndrome in children: A meta-analysis on surgical versus medical treatment. Int J Pediatr Otorhinolaryngol 2010;74(11):1203-8.
50. Adrovic A, Yildiz M, Kanber M, Ulkersoy I, Gucuyener N, Koker O, et al. Performance of recently proposed periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria in a region endemic for familial Mediterranean fever. Rheumatol Int 2019; 40(1):91-96.

APA	Karadağ Ş, Aktay Ayaz N (2020). Otoinflamatuar Periyodik Ateş Sendromları. , 27 - 32. 10.26650/jchild.2020.1.0005
Chicago	Karadağ Şerife Gül,Aktay Ayaz Nuray Otoinflamatuar Periyodik Ateş Sendromları. (2020): 27 - 32. 10.26650/jchild.2020.1.0005
MLA	Karadağ Şerife Gül,Aktay Ayaz Nuray Otoinflamatuar Periyodik Ateş Sendromları. , 2020, ss.27 - 32. 10.26650/jchild.2020.1.0005
AMA	Karadağ Ş,Aktay Ayaz N Otoinflamatuar Periyodik Ateş Sendromları. . 2020; 27 - 32. 10.26650/jchild.2020.1.0005
Vancouver	Karadağ Ş,Aktay Ayaz N Otoinflamatuar Periyodik Ateş Sendromları. . 2020; 27 - 32. 10.26650/jchild.2020.1.0005
IEEE	Karadağ Ş,Aktay Ayaz N "Otoinflamatuar Periyodik Ateş Sendromları." , ss.27 - 32, 2020. 10.26650/jchild.2020.1.0005
ISNAD	Karadağ, Şerife Gül - Aktay Ayaz, Nuray. "Otoinflamatuar Periyodik Ateş Sendromları". (2020), 27-32. https://doi.org/10.26650/jchild.2020.1.0005

APA	Karadağ Ş, Aktay Ayaz N (2020). Otoinflamatuar Periyodik Ateş Sendromları. Çocuk Dergisi, 20(1), 27 - 32. 10.26650/jchild.2020.1.0005
Chicago	Karadağ Şerife Gül,Aktay Ayaz Nuray Otoinflamatuar Periyodik Ateş Sendromları. Çocuk Dergisi 20, no.1 (2020): 27 - 32. 10.26650/jchild.2020.1.0005
MLA	Karadağ Şerife Gül,Aktay Ayaz Nuray Otoinflamatuar Periyodik Ateş Sendromları. Çocuk Dergisi, vol.20, no.1, 2020, ss.27 - 32. 10.26650/jchild.2020.1.0005
AMA	Karadağ Ş,Aktay Ayaz N Otoinflamatuar Periyodik Ateş Sendromları. Çocuk Dergisi. 2020; 20(1): 27 - 32. 10.26650/jchild.2020.1.0005
Vancouver	Karadağ Ş,Aktay Ayaz N Otoinflamatuar Periyodik Ateş Sendromları. Çocuk Dergisi. 2020; 20(1): 27 - 32. 10.26650/jchild.2020.1.0005
IEEE	Karadağ Ş,Aktay Ayaz N "Otoinflamatuar Periyodik Ateş Sendromları." Çocuk Dergisi, 20, ss.27 - 32, 2020. 10.26650/jchild.2020.1.0005
ISNAD	Karadağ, Şerife Gül - Aktay Ayaz, Nuray. "Otoinflamatuar Periyodik Ateş Sendromları". Çocuk Dergisi 20/1 (2020), 27-32. https://doi.org/10.26650/jchild.2020.1.0005