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PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, (PFAPA) SYNDROME AND NLRP3 GENE ASSOCIATION

Year 2023, Volume: 45 Issue: 2, 1 - 6, 30.06.2023

Gülşah Ünsal

https://doi.org/10.7197/cmj.1310396

Abstract

PFAPA syndrome, which also includes aphthous stomatitis, pharyngitis, and adenitis, is the most common type of recurrent fever in children. Usually happens before the age of five. This syndrome is characterized by attacks lasting 3-7 days, recurring every 2-8 weeks with high fever (39 C and above) accompanied by at least one of the signs of aphthous stomatitis, pharyngitis, and/or cervical adenitis. Between attacks, the child is completely healthy.PFAPA is a benign disease that regresses with age. Steroids are used in the treatment of attacks. Colchicine is often preferred in prophylactic treatment. However, if there is no response to medical treatment, surgery (tonsillectomy) can be performed. Genetic and environmental factors are considered in the etiology. Genetic susceptibility concentrated on the genes for Familiar Mediterranean Fever (FMF, MEFV), TNF-Receptor-Associated Periodic Syndrome (TRAPS, gene TNFRF1A), HyperIgDSyndrome (HIDS, gene MVK), and Cryopyrin-Associated Periodic Syndrome (CAPS, gene NLRP3). But its etiology is still unknown.

Keywords

recurrent fever PFAPA CHILD NLRP3

Project Number

yok

References

  • 1. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 1987;110(1):43–6.
  • 2. Marshall GS, Edwards KM, Lawton AR. PFAPA syndrome. Pediatr Infect Dis J. 1989;8(9):658–9.
  • 3. 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.
  • 4. Forsvoll J, Kristoffersen EK, Oymar K. Incidence, clinical characteristics and outcome in Norwegian children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome; a population-based study. Acta Paediatr. 2013;102(2):187–92.
  • 5. Hofer M, Pillet P, Cochard MM, et al. International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatology (Oxford). 2014;53:1125e1129.
  • 6. Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol Online J. 2016;14:38.
  • 7. Ferreira Cristina S, Costa A, Toscano M, Kakoo Brioso E, Cipriano P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome: a rare etiology of fever in adults. Cureus. 2021;13(4):e14749 .
  • 8. 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 Apr;18(4):18.
  • 9. John CC, Gilsdorf JR. Recurrent fever in children. Pediatr Infect Dis J. 2002;21(11):1071–7.
  • 10. Pignataro L, Torretta S, Pietrogrande MC, Dellepiane RM, Pavesi P, Bossi A, et al. The outcome of tonsillectomy in selected patients with PFAPA syndrome. Arch Otolaryngol Head Neck Surg. 2009;135(6):548–53.
  • 11. Kolly L, Busso N, von Scheven-Gete A, Bagnoud N, Moix I, Holzinger D, et al. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL 1beta production. J Allergy Clin Immunol. 2013;131(6):1635–43. .
  • 12. Buno IJ, Huff JC, Weston WL, Cook DT, Brice SL. Elevated levels of interferon-gamma, tumor necrosis factor-alpha, interleukins 2, 4, and 5, but not interleukin 10, are present in recurrent aphthous stomatitis. Arch Dermatol. 1998;134(7):827–31.
  • 13. Commins SP, Borish L, Steinke JW. Immunologic messenger molecules: cytokines, interferons, and chemokines. J Allergy Clin Immunol. 2010;125(2 Suppl 2):S53–72.
  • 14. Forsvoll J, Kristoffersen EK, Oymar K. Elevated levels of CXCL10 in the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) during and between febrile episodes; an indication of persistent activation of the innate. ımmune system.Pediatr Rheumatol. Online J.2013;11(1):38 : s.n.
  • 15. Dytrych P, Krol P, Kotrova M, Kuzilkova D, Hubacek P, Krol L, et al. Polyclonal, newly derived T cells with low expression of inhibitory molecule PD-1 in tonsils define the phenotype of lymphocytes in children with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA)syndrome. Mol ımmunol.2015;65(1):139-47
  • 16. Stojanov S, Hoffmann F, Kery A, Renner ED, Hartl D, Lohse P, et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw. 2006;17(2):90–7.
  • 17. Valenzuela PM, Araya A, Perez CI, Maul X, Serrano C, Beltran C, et al. Profile of inflammatory mediators in tonsils of patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Clin Rheumatol. 2013;32(12):. 1743-9 : s.n.
  • 18. Okamoto CT, Chaves HL, Schmitz MJ. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome in children: a brief literature review. Rev Paul Pediatr. 2022 Jun 10;40:e2021087. doi: 10.1590/1984-0462/2022/40/2021087IN. PMID: . 35703722; PMCID: PMC9190469. : s.n.
  • 19. Nalbantoğlu A, Nalbantoğlu B. Vitamin D deficiency as a risk factor for PFAPA syndrome. Int J Pediatr Otorhinolaryngol. 2019;121:55-7. https://doi.org/10.1016/j.ijporl.2019.02.047 .
  • 20. Stagi S, Bertini F, Rigante D, Falcini F. Vitamin D levels and effects of vitamin D replacement in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.Int J Pediatr Otorhinolaryngol. 2014;78:964-8.
  • 21. Kettunen S, Lantto U, Koivunen P, Tapiainen T, Uhari M, Renko M. Risk factors for periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: a case-control study. Eur J Pediatr. 2018;177:1201-6.
  • 22. Thomas KT, Feder HM, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135:15-21. https://doi.org/10.1016/s0022-3476(99)70321-5.
  • 23. Cochard M, Clet J, Le L, Pillet P, Onrubia X, Gueron T, et al. PFAPA syndrome is not a sporadic disease. Rheumatology. 2010;49(10):1984–7. .
  • 24. Perko D, Debeljak M, Toplak N, Avcin T. Clinical features and genetic background of the periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients. Mediators Inflamm. 2015;2015:293417.
  • 25. Wurster VM, Carlucci JG, Feder Jr HM, Edwards KM. Long-term follow-up of children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome. J Pediatr. 2011;159(6): 958–64.
  • 26. Yıldız M, Haslak F, Adrovic A, et al. Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome: A single-center experience. Turk Arch Pediatr. 2022;57(1):46-52.
  • 27. Kaynak D, Yildiz M, Sahin S, Haslak F, Gunalp A, Adrovic A, Barut K, Gunver MG, Kasapcopur O, Dasdemir S. NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. Clin Rheumatol. 2023 . Jan;42(1):245-251 : s.n.
  • 28. Yildiz M, Adrovic A, Ulkersoy I, Gucuyener N, Koker O, Sahin S, Haslak F, Barut K, Kasapcopur O (2021) The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Eur J Pediatr . 180(4):1051-1058 : s.n.
  • 29. Berkun Y, Levy R, Hurwitz A, Meir-Harel M, Lidar M, Livneh A, Padeh S (2011) The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome. Semin Arthritis Rheum 40(5):467–472.
  • 30. ÜNSAL Gülşah. Periyodik ateş, aftöz stomatit, farenjit, servikal adenit (PFAPA) sendromu tanılı hastalarda NLRP3 gen mutasyonu,Sivas Cumhuriyet Üniversitesi Tıp Fakültesi,Tıpta uzmanlık tezi,2019.
  • 31. Strowig, T., J. Henao-Mejia, E. Elinav, and R. Flavell. 2012. Inflammasomes in health and disease. Nature 481: 278–286.
  • 32. Rieber, N., A. Gavrilov, L. Hofer, A. Singh, H. O ¨z, T. Endres,et al A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. Clin. Immunol,2015. 157: 56-64.
  • 33. Kubota K, Ohnishi H, Teramoto T, Kawamoto N, Kasahara K, Ohara O et al. Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.J Clin. İmmunol 2014 Jule;34(5):584-93 34. Dagan E, Gershoni-Baruch R, Khatib I, Mori A, Brik R MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatol Int. 2010 Mar;30:633-6.
  • 35. Di Gioia SA, Bedoni N, von Scheven-Gête A, Vanoni F, Super tiFurga A, Hofer M et al (2015) Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Sci Rep 5:10200. https://doi.org/10. . 1038/srep10200 : s.n.
  • 36. Ekinci RBK, Anlaş Ö , Özalp Ö. Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Arch Rheumatol 2023;38(x):i-viii.
  • 37. Wang A, Manthiram K, Dedeoglu F, Licameli GR. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review. World J Otorhinolaryngol Head Neck Surg. 2021 Jun 27;7(3):166-173. 38. 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;74:1203e1208.
  • 39. Butbul Aviel Y, Tatour S, Gershoni Baruch R, Brik R. Colchicine as a therapeutic option in periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. Semin Arthritis Rheum. 2016;45(4):471-474.
  • 40. Gunes M, Cekic S, Kilic SS. Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis episodes in Mediterranean fever gene variants? Pediatr Int. 2017;59:655-60. https://doi. org/10.1111/ped.13265.
  • 41. Dusser P, Hentgen V, Neven B, Kone´-Paut I. Is colchicine an effective treatment in periodic fever, aphtous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. Jt Bone Spine. 2016;83:406e411. 47.
  • 42. Pehlivan E, Adrovic A, Sahin S, et al. PFAPA syndrome in a popula tion with endemic familial Mediterranean fever. J Pediatr. 2018;192:253-255.
  • 43. Manthiram K, Li SC, Hausmann JS, Amarilyo G, Barron K, Kim H, et al. Physicians’ perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Rheumatol Int. 2017;37:883-9.
  • 44. Gaggiano C, Rigante D, Sota J, Grosso S, Cantarini L. Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review. Clin Rheumatol. 2019;38:11-7. .
  • 45. Erdogan F, Kulak K, Öztürk O, İpek İÖ, Ceran Ö, Seven H. Surgery vs medical treatment in the management of PFAPA syndrome: a comparative trial. Paediatr Int Child Health. 2016;36:270-4.
  • 46. Ibáñez Alcalde MLM, Caldevilla Asenjo L, Calvo Rey C, García-Mon Marañés F, Blázquez Gamero D et al, Characteristics and Disease Course in a Cohort of Children With PFAPA Syndrome in the Community of Madrid, Spain. Reumatol Clin (Engl Ed). 2019 Nov-Dec;15. (6):355-359 : s.n.
  • 47. Vigo G, Martini G, Zoppi S, Vittadello F, Zulian F. Tonsillectomy efficacy in children with PFAPA syndrome is comparable to the standard medical treatment: a long-term observational study. Clin Exp Rheumatol. 2014;32:S156eS159.

Year 2023, Volume: 45 Issue: 2, 1 - 6, 30.06.2023

Gülşah Ünsal

https://doi.org/10.7197/cmj.1310396

Abstract

Supporting Institution

yok

Project Number

yok

References

  • 1. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 1987;110(1):43–6.
  • 2. Marshall GS, Edwards KM, Lawton AR. PFAPA syndrome. Pediatr Infect Dis J. 1989;8(9):658–9.
  • 3. 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.
  • 4. Forsvoll J, Kristoffersen EK, Oymar K. Incidence, clinical characteristics and outcome in Norwegian children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome; a population-based study. Acta Paediatr. 2013;102(2):187–92.
  • 5. Hofer M, Pillet P, Cochard MM, et al. International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatology (Oxford). 2014;53:1125e1129.
  • 6. Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol Online J. 2016;14:38.
  • 7. Ferreira Cristina S, Costa A, Toscano M, Kakoo Brioso E, Cipriano P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome: a rare etiology of fever in adults. Cureus. 2021;13(4):e14749 .
  • 8. 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 Apr;18(4):18.
  • 9. John CC, Gilsdorf JR. Recurrent fever in children. Pediatr Infect Dis J. 2002;21(11):1071–7.
  • 10. Pignataro L, Torretta S, Pietrogrande MC, Dellepiane RM, Pavesi P, Bossi A, et al. The outcome of tonsillectomy in selected patients with PFAPA syndrome. Arch Otolaryngol Head Neck Surg. 2009;135(6):548–53.
  • 11. Kolly L, Busso N, von Scheven-Gete A, Bagnoud N, Moix I, Holzinger D, et al. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL 1beta production. J Allergy Clin Immunol. 2013;131(6):1635–43. .
  • 12. Buno IJ, Huff JC, Weston WL, Cook DT, Brice SL. Elevated levels of interferon-gamma, tumor necrosis factor-alpha, interleukins 2, 4, and 5, but not interleukin 10, are present in recurrent aphthous stomatitis. Arch Dermatol. 1998;134(7):827–31.
  • 13. Commins SP, Borish L, Steinke JW. Immunologic messenger molecules: cytokines, interferons, and chemokines. J Allergy Clin Immunol. 2010;125(2 Suppl 2):S53–72.
  • 14. Forsvoll J, Kristoffersen EK, Oymar K. Elevated levels of CXCL10 in the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) during and between febrile episodes; an indication of persistent activation of the innate. ımmune system.Pediatr Rheumatol. Online J.2013;11(1):38 : s.n.
  • 15. Dytrych P, Krol P, Kotrova M, Kuzilkova D, Hubacek P, Krol L, et al. Polyclonal, newly derived T cells with low expression of inhibitory molecule PD-1 in tonsils define the phenotype of lymphocytes in children with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA)syndrome. Mol ımmunol.2015;65(1):139-47
  • 16. Stojanov S, Hoffmann F, Kery A, Renner ED, Hartl D, Lohse P, et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw. 2006;17(2):90–7.
  • 17. Valenzuela PM, Araya A, Perez CI, Maul X, Serrano C, Beltran C, et al. Profile of inflammatory mediators in tonsils of patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Clin Rheumatol. 2013;32(12):. 1743-9 : s.n.
  • 18. Okamoto CT, Chaves HL, Schmitz MJ. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome in children: a brief literature review. Rev Paul Pediatr. 2022 Jun 10;40:e2021087. doi: 10.1590/1984-0462/2022/40/2021087IN. PMID: . 35703722; PMCID: PMC9190469. : s.n.
  • 19. Nalbantoğlu A, Nalbantoğlu B. Vitamin D deficiency as a risk factor for PFAPA syndrome. Int J Pediatr Otorhinolaryngol. 2019;121:55-7. https://doi.org/10.1016/j.ijporl.2019.02.047 .
  • 20. Stagi S, Bertini F, Rigante D, Falcini F. Vitamin D levels and effects of vitamin D replacement in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.Int J Pediatr Otorhinolaryngol. 2014;78:964-8.
  • 21. Kettunen S, Lantto U, Koivunen P, Tapiainen T, Uhari M, Renko M. Risk factors for periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: a case-control study. Eur J Pediatr. 2018;177:1201-6.
  • 22. Thomas KT, Feder HM, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135:15-21. https://doi.org/10.1016/s0022-3476(99)70321-5.
  • 23. Cochard M, Clet J, Le L, Pillet P, Onrubia X, Gueron T, et al. PFAPA syndrome is not a sporadic disease. Rheumatology. 2010;49(10):1984–7. .
  • 24. Perko D, Debeljak M, Toplak N, Avcin T. Clinical features and genetic background of the periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients. Mediators Inflamm. 2015;2015:293417.
  • 25. Wurster VM, Carlucci JG, Feder Jr HM, Edwards KM. Long-term follow-up of children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome. J Pediatr. 2011;159(6): 958–64.
  • 26. Yıldız M, Haslak F, Adrovic A, et al. Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome: A single-center experience. Turk Arch Pediatr. 2022;57(1):46-52.
  • 27. Kaynak D, Yildiz M, Sahin S, Haslak F, Gunalp A, Adrovic A, Barut K, Gunver MG, Kasapcopur O, Dasdemir S. NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. Clin Rheumatol. 2023 . Jan;42(1):245-251 : s.n.
  • 28. Yildiz M, Adrovic A, Ulkersoy I, Gucuyener N, Koker O, Sahin S, Haslak F, Barut K, Kasapcopur O (2021) The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Eur J Pediatr . 180(4):1051-1058 : s.n.
  • 29. Berkun Y, Levy R, Hurwitz A, Meir-Harel M, Lidar M, Livneh A, Padeh S (2011) The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome. Semin Arthritis Rheum 40(5):467–472.
  • 30. ÜNSAL Gülşah. Periyodik ateş, aftöz stomatit, farenjit, servikal adenit (PFAPA) sendromu tanılı hastalarda NLRP3 gen mutasyonu,Sivas Cumhuriyet Üniversitesi Tıp Fakültesi,Tıpta uzmanlık tezi,2019.
  • 31. Strowig, T., J. Henao-Mejia, E. Elinav, and R. Flavell. 2012. Inflammasomes in health and disease. Nature 481: 278–286.
  • 32. Rieber, N., A. Gavrilov, L. Hofer, A. Singh, H. O ¨z, T. Endres,et al A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants. Clin. Immunol,2015. 157: 56-64.
  • 33. Kubota K, Ohnishi H, Teramoto T, Kawamoto N, Kasahara K, Ohara O et al. Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan.J Clin. İmmunol 2014 Jule;34(5):584-93 34. Dagan E, Gershoni-Baruch R, Khatib I, Mori A, Brik R MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatol Int. 2010 Mar;30:633-6.
  • 35. Di Gioia SA, Bedoni N, von Scheven-Gête A, Vanoni F, Super tiFurga A, Hofer M et al (2015) Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Sci Rep 5:10200. https://doi.org/10. . 1038/srep10200 : s.n.
  • 36. Ekinci RBK, Anlaş Ö , Özalp Ö. Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Arch Rheumatol 2023;38(x):i-viii.
  • 37. Wang A, Manthiram K, Dedeoglu F, Licameli GR. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review. World J Otorhinolaryngol Head Neck Surg. 2021 Jun 27;7(3):166-173. 38. 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;74:1203e1208.
  • 39. Butbul Aviel Y, Tatour S, Gershoni Baruch R, Brik R. Colchicine as a therapeutic option in periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. Semin Arthritis Rheum. 2016;45(4):471-474.
  • 40. Gunes M, Cekic S, Kilic SS. Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis episodes in Mediterranean fever gene variants? Pediatr Int. 2017;59:655-60. https://doi. org/10.1111/ped.13265.
  • 41. Dusser P, Hentgen V, Neven B, Kone´-Paut I. Is colchicine an effective treatment in periodic fever, aphtous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. Jt Bone Spine. 2016;83:406e411. 47.
  • 42. Pehlivan E, Adrovic A, Sahin S, et al. PFAPA syndrome in a popula tion with endemic familial Mediterranean fever. J Pediatr. 2018;192:253-255.
  • 43. Manthiram K, Li SC, Hausmann JS, Amarilyo G, Barron K, Kim H, et al. Physicians’ perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Rheumatol Int. 2017;37:883-9.
  • 44. Gaggiano C, Rigante D, Sota J, Grosso S, Cantarini L. Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review. Clin Rheumatol. 2019;38:11-7. .
  • 45. Erdogan F, Kulak K, Öztürk O, İpek İÖ, Ceran Ö, Seven H. Surgery vs medical treatment in the management of PFAPA syndrome: a comparative trial. Paediatr Int Child Health. 2016;36:270-4.
  • 46. Ibáñez Alcalde MLM, Caldevilla Asenjo L, Calvo Rey C, García-Mon Marañés F, Blázquez Gamero D et al, Characteristics and Disease Course in a Cohort of Children With PFAPA Syndrome in the Community of Madrid, Spain. Reumatol Clin (Engl Ed). 2019 Nov-Dec;15. (6):355-359 : s.n.
  • 47. Vigo G, Martini G, Zoppi S, Vittadello F, Zulian F. Tonsillectomy efficacy in children with PFAPA syndrome is comparable to the standard medical treatment: a long-term observational study. Clin Exp Rheumatol. 2014;32:S156eS159.
There are 45 citations in total.

Details

Primary Language English
Subjects Family Medicine
Journal Section Reviews
Authors

Gülşah Ünsal 0000-0003-4431-395X

Project Number yok
Early Pub Date June 30, 2023
Publication Date June 30, 2023
Acceptance Date June 25, 2023
Published in Issue Year 2023 Volume: 45 Issue: 2

Cite

AMA Ünsal G. PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, (PFAPA) SYNDROME AND NLRP3 GENE ASSOCIATION. CMJ. June 2023;45(2):1-6. doi:10.7197/cmj.1310396
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