PFAPA sendromu ve herediter periyodik ateş sendromları

Periyodik ateş sendromları tekrarlayan ateş atakları ve lokalize inflamasyonlar ile karakterize bir grup hastalıktır. Bunlardan biri olan PFAPA sendromunda 3-7 gün süren ateş ataklarının beraberinde aftöz stomatit, faranjit ve servikal lenfadenopati vardır. Çocuklar ataklar arasında asemptomatiktir. PFAPA sendromu beş yaş altı erkek çocuklarda daha sık görülmekte ve bu hastaların çoğu üst solunum yolu enfeksiyonu tanısı almakta ve antibiyotik ile tedavi edilmeye çalışılmaktadır. Burada dört ve sekiz yaşlarında uzun süre tekrarlayan tonsillit tanısı ile penisilin ve antipiretik tedavisi alan iki hasta sunulmuştur. PFAPA sendromu tanısı konan çocuklara 1 mg/kg prednisolon tedavisi uygulanmış ve tedaviye çok çabuk cevap alınmıştır. Özellikle ritmik tekrarlayan ateş atakları ve antibiyotiğe dirençli tonsilliti olan çocuklarda pediatristlerin ve kulak burun boğaz uzmanlarının aklına bu sendrom gelmelidir. Biz iki PFAPA sendromu vakası sunarak periyodik ateş sendromlarını yeniden gözden geçirdik. (J Pediatr Inf 2012; 6: 24-9)

PFAPA syndrome and hereditary periodic fever syndromes

The periodic fever sydromes are a group of disorders characterized by recurrent fever episodes and localized inflammation. One of these, the PFAPA syndrome, is seen in childhood with 3-7 day episodes of fever that is often accompanied by aphthous stomatitis, pharyngitis and cervical lymphadenopathy. The child is usually asymptomatic between episodes. PFAPA sydrome is more frequent in children under five years of age in males and most of the time these patients have been diagnosed as having an upper respiratory tract infection and to be treated with antibiotics. We present four and eight years old patients with a long term diagnosis of recurrent tonsillitis who received penicillin and antipyretic treatment. Patients who were diagnosed with PFAPA syndrome were administered 1 mg/kg prednisolone and children responded very quickly to steroid therapy. Pediatricians and otorhinolaryngologists should consider this syndrome especially in rhythmic recurring fever attacks and antibiotic resistant tonsillitis in children. We presented two cases of PFAPA syndromes and reviewed periodic fever syndromes. (J Pediatr Inf 2012; 6: 24-9)

Kaynakça

1. Kastner DL, Janka G. Hereditary Periodic Fever Syndromes: Childhood and Adolescent Hematology 2005; 45: 74-81.

2. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 2005; 17: 586-99. [CrossRef]

3. Bodar EJ, Drenth JP, van der Meer JW et al. Dysregulation of innate immunity: hereditary periodic fever syndromes, Br J Heamatol 2009; 144: 279-302. [CrossRef]

4. Marshall GS, Edwards KM, Butler J. Syndrome of periodic fever, pharyngitis and aphthous stomatitis. J Pediatr 1987; 110: 43-6. [CrossRef]

5. Thomas KT, Feder HM, Lawton AR et al. Periodic fever syndrome in children. J Pediatr 1999; 135: 15-21. [CrossRef]

6. 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. [CrossRef]

7. Özen M, Yücel G. PFAPA sendromu: Bir Periyodik Ateş Tablosu. Fırat Medical Journal 2006; 11: 75-7.

8. Tasher D, Stein M, Dalal I, et al. Colchicine prophylaxıs for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. Acta Pediatr 2008; 97: 1090-2. [CrossRef]

9. Padeh S, Brezniak N, Zemer D, et al. Periodic Fever, aphthous stomatitis, pharyngitis and adenopathy syndrome; clinical characteristics and outcome. J Pediatr 1999; 135: 98-101. [CrossRef]

10. Schiller M, Zeidler C, Bohlu M et al. Cylic neutropenia detectian acuatation in the gene for neutrophil elastase (ELA2). Hautarzt 2001; 52: 790-6. [CrossRef]

11. Laksman R, Finn A. Neutrophil disorders and their management. J Clin Pathol 2001; 54: 7-19. [CrossRef]

12. Yılmaz E, Ozen S, Balcı B et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001; 9: 553-5. [CrossRef]

13. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31. [CrossRef]

14. Gershoni –Baruch R, Shinawi M, Leah K. Familial Mediterranean Fever: prevalence, penetrance and genetic drift. Eur J Hum Genet 2001; 9: 634-7. [CrossRef]

15. Kastner DL, Aksentijevich I, Intermittent and periodic arthritis syndromes. In: Koopman WJ. Arthritis and Allied conditions (15th ed). Philadelphia: Lippincott Williams and Wilkins, 2005, p.1411-61.

16. Centola M, Wood G, Frucht DM et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95: 3223-31.

17. Simon A, Mariman EC, van der Meer JW. A founder effect in the hyperimmunoglobulinemia D and periodic fever sydrome. Am J Med 2003; 114: 148-52. [CrossRef]

18. Drent JP, van der Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345: 1748-57. [CrossRef]

19. Medlej-Hashim M, Petit I, Adib S, et al. Familial Mediterranean fever; association of elevated IgD plasma levels with specific MEFV mutations. Eur J Hum Genet 2001; 9: 849-54. [CrossRef]

20. Obici L, Manno C, Mudo AO, et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunglobulinemia D with periodic fever syndrome. Artritis Rheum 2004; 50: 2966-9. [CrossRef]

21. McDermott MF, Aksentijevıch I, Galon J, et al. Germline mutations in the extracellular domains of the 55kDa TFN receptor, TFNR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-44. [CrossRef]

22. Aksentijevich I, Galon J, Soares M, et al. The tumor-necrosisfactor receptor-associated periodic syndome: Am J Hum Genet 2001; 69: 301-14. [CrossRef]

23. Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-5. [CrossRef]

24. Dailey NJ, Aksentijevich I, Chae JJ, et al. Interleukin-1 receptör antagonist anakinra in the treatment of neonatal onset multisystem inflammatory disease. Arthritis Rheum 2004; 50(Suppl 9): 440.

Kaynak Göster