Autoinflammatory diseases in the paediatric praxis – case series
Authors:
M. Jeseňák 1,2,3; L. Kapustová 1; E. Jurková Malicherová 1; L. Molnár 1; A. Bobčáková 2; O. Petrovičová 1; A. Markocsy 1; M. Šuška 1; M. Barnová 3; P. Bánovčin 1
Authors‘ workplace:
Centrum pre periodické horúčky – Expertízne pracovisko MZ SR pre zriedkavé choroby, Klinika detí a dorastu, Univerzita Komenského, v Bratislave, Jesseniova lekárska fakulta v Martine, Univerzitná nemocnica Martin, Slovensko
1; Klinika pneumológie a ftizeológie, Univerzita Komenského v Bratislave, Jesseniova lekárska fakulta v Martine, Univerzitná nemocnica, Martin, Slovensko
2; Oddelenie klinickej imunológie a alergológie, Univerzitná nemocnica Martin, Slovensko
3
Published in:
Čes-slov Pediat 2021; 76 (4): 222-229.
Category:
Overview
Autoinflammatory diseases (AID) represent relatively new group of diseases characterized by recurrent spontaneous non-provoked flares (attacks) of inflammation/fever with a broad spectrum of systemic and organ-specific symptoms. The basic mechanism in the development of these conditions is the dysregulation of inflammatory cascade, while the most important and frequent pathophysiologic mechanism is the defective activity regulation of cytosolic inflammasome (the most famous is NLRP3 inflammasome). Typical examples of AID are monogenic periodic fever syndromes – familiar Mediterranean fever, mevalonate kinase deficiency (so-called hyper-IgD syndrome), group of cryopyrinopathies or TNF-receptor-associated periodic fever syndrome (TRAPS syndrome). The most common periodic fever in children is PFAPA syndrome with polygenic inheritance. Currently, many new diseases and entities are being described and characterized with other mechanisms of autoinflammation. The group of autoinflammatory diseases has to be included into the differential diagnostic algorithms of recurrent flares of fever or inflammation in children. Nowadays, with the available and effective therapeutic options could reach the control over the inflammation in the majority of the patients.
Keywords:
autoinflammation – inflammation cascade regulation – periodic fever – inflammatory markers
Sources
1. Król P, Doležalová P. Recidivující febrilie u dětí. Pediatr prax 2013; 14 (5): 206–209.
2. Pathak S, McDermott MF, Savic S. Autoinflammatory diseases: update on classification diagnosis and management. J Clin Pathol 2017; 70: 1–8.
3. De Torre-Minguela C, drl Castillo PM, Pelegrin P. The NLRP3 and pyrin inflammasomes: implications in the pathophysiology of autoinflammatory diseases. Front Immunol 2017; 8: 43.
4. Król P, Katra R, Doležalová P. Syndromy periodických horeček. Čes-slov Pediat 2009; 64 (10): 480–487.
5. Šedivá A. Autoinflamatorní onemocnění, vývoj oboru a nové poznatky. Alergie 2019; 21: 178–184.
6. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol 2017; 18 (8): 832–842.
7. Moghaddas F, Masters SL. The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders. Clin Sci 2018; 132: 1901–1924.
8. Jeseňák M, Rennerová Z, Vojtušová Z, et al. Primárne poruchy imunity v detskom veku – 9. časť: samozápalové (autoinflamačné) ochorenia. Pediatria (Bratisl) 2011; 6 (3): 117–126.
9. Bousfiha A, Jeddane L, Picard C, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol 2020; 40: 66–81.
10. Maggio MC, Corsello G. FMF is not always „fever“: from clinical presentation to „treat to target“. It J Pediatr 2020; 46: 7.
11. Hansmann S, Lainka E, Horneff G, et al. Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS – a German PRO-KIND initiative. Pediatr Rheumatol 2020; 18: 17:
12. Hrubišková KK, Jeseňák M, Payer J. What is hiden behind autoinflammation? Vnitr Lek 2020; 66: 35–43.
13. Hoffman HM, Broderick L. The role of the inflammasome in patients with autoinflammatory diseases. J Allergy Clin Immunol 2016; 138 (1): 3–14.
14. Sag E, Demirel D, Demir S, et al. Performance of the new Eurofever/PRINTO classification criteria in FMF patients. Sem Arthritis Rheum 2020; 50 (1): 172–175.
15. Kovács L, Hlavatá A, Smolenová J, et al. Syndrómy periodickej horúčky – syndróm mevalónovej acidúrie a hyperimunoglobulinémie D. Čes-slov Pediat 2003; 58 (12): 744–749.
16. Šedivá A. Periodické horečky a další syndromy s poruchou regulace zánětlivé odpovědi. Čes-slov Pediat 2011; 66 (3): 187–191.
17. Van der Meer JWM, Simon A. The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome. Rheumatol (Oxford) 2016; 55 (Suppl 2): ii23–ii29.
18. Booshehri LM, Hoffman HM. CAPS and NLRP3. J Clin Immunol 2019; 39 (3): 277–286.
19. Hodgson KA, Crawford NW, D Akikusa J. Recurrent fevers in children: TRAPS for young players. BMJ Case Rep 2014; 2014: bcr2013201627.
20. Jeseňák M, Havlíčeková Z, Bugová G, Bánovčin P. PFAPA syndróm – častejší ako sa zdá. Pediatria (Bratisl) 2013; 8 (2): 82–85.
21. Fingerhutová Š, Jančová E, Tesařová M, et al. Periodické horečky a jiná autoinflamatorní onemocnění. Čas Lék čes 2018; 157: 122–129.
22. Forsvoll J, Kristofferse EK, Oymar K. The immunology of the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome: what can the tonsils reveal. A literature review. Int J Pediatr Otorhinolaryngol 2020; 130: 109795.
23. Yildiz E, Kuzu S, Kahveci OK, et al. Long-term management of patients with PFAPA syndrome. Eur Arch Otorhinolaryngol 2020; 277 (8): 2335–2339.
24. Toplak N, Glavnik V, Kuhar M, Avcin T. Periodic fever syndrome with aphthous stomatitis, pharyngitis and cervical adenopathy treated with ketotifen – a case report. Pediatr Rheumatol Online J 2008; 6 (Suppl 1): P204.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2021 Issue 4
Most read in this issue
- Autoinflammatory diseases in the paediatric praxis – case series
- Congenital neutropenia in children
- The complement system I: innate defects of complement cascade proteins excluding hereditary angioedema
- MUDr. Pavel Frühauf, CSc., emeritní primář, sedmdesátníkem