Čes-slov Pediat 2023, 78(4):199-205 | DOI: 10.55095/CSPediatrie2023/035

Periodic fever syndrome, autoinflammatory diseasesKapitoly k atestaci z pediatrie

Šárka Fingerhutová, Pavla Doležalová

Centrum vysoce specializované péče pro vzácná dětská revmatická a autoinflamatorní onemocnění ERN RITA, Klinika pediatrie a dědičných poruch metabolismu, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze

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 preven

tion 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: autoinflammatory diseases, periodic fever syndrome, cytokines, interleukin 1, fever, gene, next generation sequencing (NGS)

Published: July 1, 2023  Show citation