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Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome

Yıl 2020, Cilt: 18 Sayı: 3, 444 - 456, 18.12.2020

Öz

INTRODUCTION: Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome is the most common periodic fever syndrome. The aim of this study was to evaluate the clinical and laboratory findings of patients with PFAPA syndrome at the time of the attack and the response to the given treatments.

MATERIALS and METHODS: Sixty-three individuals that applied to the pediatric rheumatology policlinic due to recurrent fever and throat infection and diagnosed with PFAPA syndrome were enrolled in this study. Patients' folders were evaluated retrospectively concerning demographic, clinical and laboratory data.

RESULTS: Forty-two (66.7%) of the patients were male, 21 (33.3%) were female. The age of onset of complaints was 2.72±1.59 years. The average delay in diagnosis was 1.71 ± 1.28 years. The remarkable finding which was seen all of our patients was the high fever. Lymphadenitis was detected in 59 (93.7%) of the patients and aphthous stomatitis was found in 56 (88.9%) of the patients. As a laboratory finding, leukocytosis, the increase in C-reactive protein and sedimentation was observed in patients. Fever decreased within a mean of 2.24 ± 1.13 hours after steroid treatment. Another remarkable finding after the first steroid treatment was the resolution of exudative tonsillitis 24 hours after the treatment.

CONCLUSIONS: Signs and symptoms of PFAPA syndrome are among the most common signs and symptoms in pediatric outpatient clinics. With increased awareness of PFAPA syndrome in clinicians, patients will be prevented from unnecessary laboratory procedures and medical treatments.

Kaynakça

  • 1. Keleş S, Özdemir C, Bahçeciler NN, Barlan IB. Periyodik Ateş Sendromları. Güncel Pediatri 2007;5: 57–61.
  • 2. Trübenbach J, Wildhardt G, Niebel J, Hawle H, Steinberger D. A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. Rheumatol Int 2010;30: 805-809.
  • 3. Kastner DL, Janka G. Hereditary Periodic Fever Syndromes. Childhood and Adolescent Hematology 2005;45: 74-81.
  • 4. Hofer M, Pillet P, Cochard M, Berg S, Krol P, Kone-Paut I, et al. International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatology (Oxford) 2014; 53: 1125-9.
  • 5. Thomas KT, Feder HM, Lawton AR, Edwards KM. Peridic fever syndrome in children. J Pediatr 1999; 135: 15-21.
  • 6. Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome Vanoni et al. Pediatric Rheumatology 2016 ;14: 38.
  • 7. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis and aphthous stomatitis. J Pediatr 1987; 110: 43-6.
  • 8. Mahamid M, Agbaria K, Mahamid A, Nseir W. Vitamin D linked to PFAPA syndrome. Int. J. Pediatr. Otorhinolaryngol 2013; 77: 362–4.
  • 9. Aktas Ö, Aytuluk HG, Caliskan SK, Erdur Ö, Cirik AA. Long-term follow-up of tonsillectomy efficacyin children with PFAPA syndrome. Braz J Otorhinolaryngol 2019; 85: 78-82.
  • 10. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. JPediatr 1999;135: 98–101.
  • 11. Padeh S. Periodic fever syndromes. Pediatr Clin North Am 2005; 52: 577-609.
  • 12. Wurster VM, Carlucci JG, Feder HM, Edwards KM. Long-term follow-up of children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome. J Pediatr 2011;159: 958–64.
  • 13. Meyerhoff J. Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis. Medicine (Baltimore) 1980; 59: 66-77.
  • 14. John CC, Gilsdorf JR. Recurrent fever in children. Pediatr Infect Dis J 2002; 21: 1071-1077.
  • 15. Scholl PR. Periodic fever syndromes. Curr Opin Pediatr 2000; 12: 563-6.
  • 16. Kasapçopur Ö, Arısoy N. PFAPA Sendromu. Turk Arch Ped 2009; 44: 80-3.
  • 17. Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 acti-vation responsive to IL-1 blockade. Proc Natl Acad Sci 2011; 108: 7148–53.
  • 18. Stojanov S, Hoffmann F, Kéry A, Renner ED, Hartl D, Lohse P, et al. Cytokine profile in PFAPA syndrome suggests continuous inf-lammation and reduced anti- inflammatory response. Eur Cytokine Netw 2006; 17: 90-7.
  • 19. Femiano F, Lanza A, Buonaiuto C, Gombos F, Cirillo N. Oral aphthous-like lesions, PFAPA syndrome: a review. J Oral Pathol Med 2008; 37: 319-23.
  • 20. Vehapoglu Turkmen A, Uzuner S, Taşkın N. PFAPA sendromu ve herediter periyodik ateş sendromları. J Pediatr Inf 2012; 6: 24-9.
  • 21. Long SS. Syndrome of Periodic Fever, Aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA)--what it isn't. What is it? J Pediatr 1999;135: 1-5.
  • 22. Padeh S, Berkun Y. Auto-inflammatory fever syndromes. Rheum Dis Clin North Am 2007; 33: 585-623.
  • 23. Feder HM, Salazar JC. A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr 2010; 99: 178-84.
  • 24. Sampaio IC, Rodrigo MJ, Monteiro Marques JG, Pereira JG. Two siblings with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome. Pediatr Infect Dis J 2009; 28: 254-5.
  • 25. Dagan E, Gershoni-Baruch R, Khatib I, Mori A, Brik R MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatol Int 2010; 30: 633-66.
  • 26. Drenth JPH, van der Meer JWM. Hereditary periodic fever. N Engl J Med 2001; 345: 1748-57.
  • 27. Hizarcıoğlu M, Asilsoy S, Demir Özek G, Ağın H, Kayserili E, Gülez P, et al. PFAPA Sendromlu Olgularımızın Klinik ve Laboratuvar Özellikleri. Bakırköy Tıp Dergisi 2008; 4: 107-10.
  • 28. Feder HM. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Curr Opin Pediatr. Jun 2000;12: 253-6.
  • 29. Çiftçi E, Özdemir H, İncesoy S, İnce E, Doğru Ü. Periyodik ateş, aftöz stomatit, farenjit ve servikal adenit (PFAPA) sendromlu bir vaka. Türk Pediatri Arşivi 2004; 39: 36-40.
  • 30. Bilici M, Kara S, Turkay S, Doğan G, Aydemir S. Periyodik Ateş, Aftoz Stomatit, Farenjit, Lenfadenit (PFAPA): Tekrarlayan Ateşin Önemli Bir Nedeni. Turkiye Klinikleri J Pediatr 2010; 19: 187-90.
  • 31. Padeh S, Stoffman N, Berkun Y. Periodic fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) in adults. Isr Med Assoc J 2008;10: 358-60.
  • 32. Hernández-Bou S, Giner M, Plaza AM, Sierra JI, Martín Mateos MA. PFAPA syndrome: with regard to a case. Allergol Immunopathol (Madr) 2003; 31: 236-9.
  • 33. Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP. Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). Cochrane Database Syst Rev 2014; 9: 1-30.

PFAPA Sendromu Tanılı Hastaların Klinik ve Laboratuvar Özelliklerinin Değerlendirilmesi

Yıl 2020, Cilt: 18 Sayı: 3, 444 - 456, 18.12.2020

Öz

GİRİŞ ve AMAÇ: Giriş-Amaç: Periyodik ateş, aftöz stomatit, farenjit, adenit (PFAPA) sendromu en yaygın görülen periyodik ateş sendromudur. Bu çalışmanın amacı, PFAPA sendromu tanısı olan hastaların atak sırasında klinik ve laboratuvar bulgularını ve tedavilere verilen yanıtı değerlendirmektir.

YÖNTEM ve GEREÇLER: Bu çalışmaya tekrarlayan ateş ve boğaz enfeksiyonu nedeniyle çocuk romatoloji polikliniği tarafından PFAPA tanısı konulmuş 63 hasta dahil edildi. Hastaların demografik, klinik ve labaratuvar verileri hasta dosyalarından retrospektif olarak değerlendirildi.

BULGULAR: 42 (%66,7) hasta erkek, 21 (%33,3) hasta kızdı. Şikayetlerin başlama yaşı ortalama 2,72±1,59 yaş idi. Tanı koyulana kadar geçen süre ortalama 1,71 ± 1,28 yaştı. Bütün hastalarda dikkat çekici bulgu olarak ateş düşürücüye yanıt vermeyen dirençli yüksek ateş mevcuttu. Hastaların 59’ unda (%93,7) lenfadenit, 56’ sında (%88,9) aftöz stomatit mevcuttu. Tetkiklerinde lökositoz, artmış C-reaktif protein ve sedimantasyon gözlendi. Steroid tedavisi ile ateşin ortalama 2.24 ± 1.13 saatte düştüğü gözlendi. Bir diğer dikkat çekici bulgu ise steroid tedavisi ile 24 saatin sonunda exudatif tonsillit bulgularının gerilediği idi.

TARTIŞMA ve SONUÇ: PFAPA sendromuna ait semptom ve bulgular pediatrik yaş grubunda en sık görülen semptom ve bulgulardandır. PFAPA sendromu farkındalığı klinisyenlerde arttıkça hastalar gereksiz laboratuvar tetkikleri ve tedavilerden korunmuş olacaktır.

Kaynakça

  • 1. Keleş S, Özdemir C, Bahçeciler NN, Barlan IB. Periyodik Ateş Sendromları. Güncel Pediatri 2007;5: 57–61.
  • 2. Trübenbach J, Wildhardt G, Niebel J, Hawle H, Steinberger D. A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. Rheumatol Int 2010;30: 805-809.
  • 3. Kastner DL, Janka G. Hereditary Periodic Fever Syndromes. Childhood and Adolescent Hematology 2005;45: 74-81.
  • 4. Hofer M, Pillet P, Cochard M, Berg S, Krol P, Kone-Paut I, et al. International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatology (Oxford) 2014; 53: 1125-9.
  • 5. Thomas KT, Feder HM, Lawton AR, Edwards KM. Peridic fever syndrome in children. J Pediatr 1999; 135: 15-21.
  • 6. Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome Vanoni et al. Pediatric Rheumatology 2016 ;14: 38.
  • 7. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis and aphthous stomatitis. J Pediatr 1987; 110: 43-6.
  • 8. Mahamid M, Agbaria K, Mahamid A, Nseir W. Vitamin D linked to PFAPA syndrome. Int. J. Pediatr. Otorhinolaryngol 2013; 77: 362–4.
  • 9. Aktas Ö, Aytuluk HG, Caliskan SK, Erdur Ö, Cirik AA. Long-term follow-up of tonsillectomy efficacyin children with PFAPA syndrome. Braz J Otorhinolaryngol 2019; 85: 78-82.
  • 10. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. JPediatr 1999;135: 98–101.
  • 11. Padeh S. Periodic fever syndromes. Pediatr Clin North Am 2005; 52: 577-609.
  • 12. Wurster VM, Carlucci JG, Feder HM, Edwards KM. Long-term follow-up of children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome. J Pediatr 2011;159: 958–64.
  • 13. Meyerhoff J. Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis. Medicine (Baltimore) 1980; 59: 66-77.
  • 14. John CC, Gilsdorf JR. Recurrent fever in children. Pediatr Infect Dis J 2002; 21: 1071-1077.
  • 15. Scholl PR. Periodic fever syndromes. Curr Opin Pediatr 2000; 12: 563-6.
  • 16. Kasapçopur Ö, Arısoy N. PFAPA Sendromu. Turk Arch Ped 2009; 44: 80-3.
  • 17. Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 acti-vation responsive to IL-1 blockade. Proc Natl Acad Sci 2011; 108: 7148–53.
  • 18. Stojanov S, Hoffmann F, Kéry A, Renner ED, Hartl D, Lohse P, et al. Cytokine profile in PFAPA syndrome suggests continuous inf-lammation and reduced anti- inflammatory response. Eur Cytokine Netw 2006; 17: 90-7.
  • 19. Femiano F, Lanza A, Buonaiuto C, Gombos F, Cirillo N. Oral aphthous-like lesions, PFAPA syndrome: a review. J Oral Pathol Med 2008; 37: 319-23.
  • 20. Vehapoglu Turkmen A, Uzuner S, Taşkın N. PFAPA sendromu ve herediter periyodik ateş sendromları. J Pediatr Inf 2012; 6: 24-9.
  • 21. Long SS. Syndrome of Periodic Fever, Aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA)--what it isn't. What is it? J Pediatr 1999;135: 1-5.
  • 22. Padeh S, Berkun Y. Auto-inflammatory fever syndromes. Rheum Dis Clin North Am 2007; 33: 585-623.
  • 23. Feder HM, Salazar JC. A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr 2010; 99: 178-84.
  • 24. Sampaio IC, Rodrigo MJ, Monteiro Marques JG, Pereira JG. Two siblings with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome. Pediatr Infect Dis J 2009; 28: 254-5.
  • 25. Dagan E, Gershoni-Baruch R, Khatib I, Mori A, Brik R MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA. Rheumatol Int 2010; 30: 633-66.
  • 26. Drenth JPH, van der Meer JWM. Hereditary periodic fever. N Engl J Med 2001; 345: 1748-57.
  • 27. Hizarcıoğlu M, Asilsoy S, Demir Özek G, Ağın H, Kayserili E, Gülez P, et al. PFAPA Sendromlu Olgularımızın Klinik ve Laboratuvar Özellikleri. Bakırköy Tıp Dergisi 2008; 4: 107-10.
  • 28. Feder HM. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Curr Opin Pediatr. Jun 2000;12: 253-6.
  • 29. Çiftçi E, Özdemir H, İncesoy S, İnce E, Doğru Ü. Periyodik ateş, aftöz stomatit, farenjit ve servikal adenit (PFAPA) sendromlu bir vaka. Türk Pediatri Arşivi 2004; 39: 36-40.
  • 30. Bilici M, Kara S, Turkay S, Doğan G, Aydemir S. Periyodik Ateş, Aftoz Stomatit, Farenjit, Lenfadenit (PFAPA): Tekrarlayan Ateşin Önemli Bir Nedeni. Turkiye Klinikleri J Pediatr 2010; 19: 187-90.
  • 31. Padeh S, Stoffman N, Berkun Y. Periodic fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) in adults. Isr Med Assoc J 2008;10: 358-60.
  • 32. Hernández-Bou S, Giner M, Plaza AM, Sierra JI, Martín Mateos MA. PFAPA syndrome: with regard to a case. Allergol Immunopathol (Madr) 2003; 31: 236-9.
  • 33. Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP. Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). Cochrane Database Syst Rev 2014; 9: 1-30.
Toplam 33 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular İç Hastalıkları
Bölüm Research Article
Yazarlar

Vildan Güngörer

Alaaddin Yorulmaz

Şükrü Arslan 0000-0001-5632-8273

Yayımlanma Tarihi 18 Aralık 2020
Yayımlandığı Sayı Yıl 2020 Cilt: 18 Sayı: 3

Kaynak Göster

APA Güngörer, V., Yorulmaz, A., & Arslan, Ş. (t.y.). Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome. Güncel Pediatri, 18(3), 444-456.
AMA Güngörer V, Yorulmaz A, Arslan Ş. Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome. Güncel Pediatri. 18(3):444-456.
Chicago Güngörer, Vildan, Alaaddin Yorulmaz, ve Şükrü Arslan. “Evaluation of Clinical and Laboratory Characteristics of Patients With PFAPA Syndrome”. Güncel Pediatri 18, sy. 3 t.y.: 444-56.
EndNote Güngörer V, Yorulmaz A, Arslan Ş Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome. Güncel Pediatri 18 3 444–456.
IEEE V. Güngörer, A. Yorulmaz, ve Ş. Arslan, “Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome”, Güncel Pediatri, c. 18, sy. 3, ss. 444–456.
ISNAD Güngörer, Vildan vd. “Evaluation of Clinical and Laboratory Characteristics of Patients With PFAPA Syndrome”. Güncel Pediatri 18/3 (t.y.), 444-456.
JAMA Güngörer V, Yorulmaz A, Arslan Ş. Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome. Güncel Pediatri.;18:444–456.
MLA Güngörer, Vildan vd. “Evaluation of Clinical and Laboratory Characteristics of Patients With PFAPA Syndrome”. Güncel Pediatri, c. 18, sy. 3, ss. 444-56.
Vancouver Güngörer V, Yorulmaz A, Arslan Ş. Evaluation of Clinical and Laboratory Characteristics of Patients with PFAPA Syndrome. Güncel Pediatri. 18(3):444-56.