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; Peter 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
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2021 Issue 4
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