Modern Pediatrics. Ukraine. 6(110): 57-61. doi 10.15574/SP.2020.110.57
Khapchenkova D. S., Dubyna S. О.
Donetsk National Medical University, Lуman, Ukraine

For citation: Khapchenkova DS, Dubyna SО. (2020). РFАРА–syndrome: a literature review and own clinical observation. Modern Pediatrics. Ukraine. 6(110): 57–61. doi 10.15574/SP.2020.110.57
Article received: Jul 24, 2020. Accepted for publication: Oct 07, 2020.

Аutoinflammatory diseases or syndromes (HAIDS) have attracted practical and scientific interest. This group of pathologies is united by similar clinical symptoms in the form of periodic fever, systemic inflammation and other clinical syndromes. PFAPA — syndrome or Marshall's syndrome is one of the most common representatives of this group of diseases. РFАРА syndrome (Marshall's syndrome) is considered an autoinflammatory disease of unknown etiology and not fully studied pathogenesis. Gene mutations, family inheritance and the modifying role of persistent intracellular infections are considered as the causes of development. Genetically determined immune responses and neutrophilic inflammation, the presence of immune dysregulation play a role in the pathogenesis of Marshall's syndrome. The incidence and prevalence of this condition in the pediatric population are unknown. The pathology is characteristic of early childhood, the syndrome is characterized periodic fever, aphthous stomatitis, pharyngitis or tonsillitis and cervical adenitis. Patients do not have disturbances in well-being between episodes, pathognomonic laboratory changes, have normal growth and development indicators. The syndrome occurs in children under 5 years, disappears in adolescence, has good+quality current, the treatment of which is the administration of corticosteroids. The pathology has no specific biological markers, so the diagnosis is made on the basis of clinical manifestations, a thorough analysis of the history and the exclusion of other possible causes of recurrence fever.
Purpose: to highlight the complexity of the diagnosis of PFAPA–syndrome.
Clinical case. The article describes own clinical case of a child with Marshall's syndrome. Recurrent attacks of fever with a specific frequency in combination with aphthous stomatitis, pharyngitis and cervical lymphadenitis, the absence of specific laboratory changes and the positive effect of the corticosteroids treatment it possible to diagnose the above diagnosis.
Conclusion. Literature data and the above clinical case indicate the difficulty of diagnosing this syndrome, long-term irrational drug treatment without clinical effect. So physicians in many specialties need to remember the need for a detailed survey of patients and parents, pay attention to the time and frequency of symptoms described above, and their combinations, if Marshall's syndrome is suspected do not be afraid to prescribe glucocorticosteroids for therapeutic and prophylactic purposes.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies.
No conflict of interest was declared by the authors.
Keywords: Marshall's syndrome, children, periodic fever, corticosteroids.

REFERENCES

1. Alam F, Hammoudeh M. (2018). An underlooked cause of periodic fever (PFAPA) in an adult patient with no response to tonsillectomy. Case Rep Rheumatol. 6580835. https://doi.org/10.1155/2018/6580835; PMid:29854539 PMCid:PMC5954889

2. Batu ED. (2019). Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: main features and an algorithm for clinical practice. Rheumatol Int. Jun. 39(6): 957-970. https://doi.org/10.1007/s00296-019-04257-0; PMid:30798384

3. Batu ED, Batu HB. (2019). Recurrence of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome after tonsillectomy: case2based review. Rheumatol Int. Jun. 39(6): 1099-1105. https://doi.org/10.1007/s00296-019-04310-y; PMid:31020337

4. Berkun Y, Levy R, Hurwitz A, Meir2Harel 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. https://doi.org/10.1016/j.semarthrit.2010.06.009; PMid:20828792

5. Feder HM, Salazar JC. (2010). A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr. 99(2): 178-184. https://doi.org/10.1111/j.1651-2227.2009.01554.x; PMid:19889105

6. Gattorno M, Hofer M, Federici S et al. (2019). Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 78: 1025-1032.

7. Kastner DL, Aksentijevich I, Goldbach2Mansky R. (2010). Autoinflammatory disease reloaded: a clinical perspective. Cell. 140(6): 784-790. https://doi.org/10.1016/j.cell.2010.03.002; PMid:20303869 PMCid:PMC3541025

8. Kuznecova SA, Zrjachkin NI, Careva JuA, Elizarova TV, Zaharova GR. (2018). PFAPA syndrome: modern paradigm and case description. Almanac of Clinical Medicine. 46(2): 184-193. https://doi.org/10.18786/2072-0505-2018-46-2-184-193

9. Long SS. (1999). Syndrome of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) – What it isn't. What is it? J Pediatr. 135: 98-101. https://doi.org/10.1016/S0022-3476(99)70316-1

10. Maidannyk VG. (2013). Modern aspects of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (Marshall's syndrome) in children. International Journal of Pediatrics, Obstetrics and Gynecology. Russian. 3(3): 63-74.

11. Marques DP, Rocha S, Manso M, Domingos R. (2019). Periodic Fever with Pharyngitis, Aphthous Stomatitis and Cervical Adenitis Syndrome: A rare cause of fever in adults. Eur J Case Rep Intern Med. 6:001041. https://doi.org/10.12890/2019_001041; PMid:30931275 PMCid:PMC6438113

12. Marshall GS, Edwards KM, Butler J, Lawton AR. (1987). Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 110(1): 43-46. https://doi.org/10.1016/S0022-3476(87)80285-8

13. Perko D, Debeljak M, Toplak N et al. (2015). Clinical features and genetic background periodic fever syndrome of the aphthous stomatitis with, pharyngitis, and adenitis: a single center longitudinal study of 81 patients. Mediators Inflamm. 293417. https://doi.org/10.1155/2015/293417; PMid:25821352 PMCid:PMC4364074

14. Salugina SO, Kuzmina NN, Fedorov ES. (2012). Auto-inflammatory syndromes as a «new» multidisciplinary problem of pediatrics and rheumatology. Pediatria. Russian. 91(5): 120-132.

15. Stojanov S, Lapidus S, Chitkara P et al. (2011). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci USA. 108(17): 714827153. https://doi.org/10.1073/pnas.1103681108; PMid:21478439 PMCid:PMC3084055

16. Thomas KT, Feder HM, Lawton AR, Edwards KM. (1999). Periodic fever syndrome in children. J Pediatr. 135(1): 15-21. https://doi.org/10.1016/S0022-3476(99)70321-5

17. Wiesik-Szewczyk E, Wolska-Kusnierz B, Jahnz2Rozyk K. (2019). Reumatologia. 57(5): 292-296. https://doi.org/10.5114/reum.2019.89523; PMid:31844343 PMCid:PMC6911254