Periodic fever syndrome, autoinflammatory diseases

Česká verzia

Authors: Fingerhutová Šárka; Doležalová Pavla
Authors place of work: Klinika pediatrie a dědičných poruch metabolismu, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze ; Centrum vysoce specializované péče pro vzácná dětská revmatická a autoinflamatorní onemocnění ERN RITA
Published in the journal: Čes-slov Pediat 2023; 78 (4): 199-205.
Category: Chapters for Specialization in Pediatrics
doi: https://doi.org/10.55095/CSPediatrie2023/035

Summary

Autoinflammatory diseases (AID) include a diverse group of diseases defined by dysregulation of the innate immune system. Clinical manifestations of sterile inflammation include usually episodic fever with variable presence of organ involvement. A more detailed understanding of the etiopathogenetic background of AID opens new perspectives for targeted therapies. Disease activity control and prevention of organ damage are the main treatment goals. Multidisciplinary management of AID should be concentrated in specialised centers.

The best known group of AIDs,periodic fever syndromes,include Familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), Cryopyrin-associated periodic syndromes (CAPS) and Periodic fever with aphthae, pharyngitis and cervical adenitis (PFAPA ).

The article provides general information about the group of autoinflammatory diseases and the most common types of periodic fevers.

Keywords:

interleukin 1 – next generation sequencing (NGS) – Cytokines – fever – gene – autoinflammatory diseases – periodic fever syndrome

Zdroje

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