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Gastroenterologie
a hepatologie

Gastroenterology and Hepatology

Gastroent Hepatol 2018; 72(2): 152–157. doi:10.14735/amgh2018csgh.info04.

Gastrointestinálne prejavy familiárnej stredomorskej horúčky – problém aj v strednej Európe?

Zuzana Havlíčeková, Miloš Jeseňák, Nadežda Mišovicová, Jana Kršiaková, Ľubica Jakušová, Peter Bánovčin

Souhrn

Autoinflamačné (samozápalové) ochorenia sú skupina zriedkavých, geneticky determinovaných ochorení charakterizovaných spontánnou rekurentnou hyperaktiváciou mechanizmov vrodenej imunity pri absencii infekčných alebo autoimúnnych príčin. Familiárna stredomorská horúčka je najčastejšie monogénne autoinflamačné ochorenie, ktoré postihuje predovšetkým etnické skupiny žijúce v oblasti Stredomoria a Blízkeho východu. Výskyt v iných etnických skupinách je pomerne zriedkavý, ale vzhľadom k migrácii obyvateľstva sa s ním môžeme stretnúť aj v našich zemepisných šírkach. Popri febríliách sú bolesti brucha najčastejším klinickým príznakom familiárnej stredomorskej horúčky. Autori v článku prezentujú kazuistiky štyroch pediatrických pacientov sledovaných v Centre pre diagnostiku a liečbu primárnych imunodeficiencií JLF UK a UN Martin s gastrointestinálnou symptomatológiou, z ktorých len jeden mal predkov pochádzajúcich z oblasti  Stredomoria.

Klíčová slova

bolesti brucha, deti, familiárna stredomorská horúčka, periodická horúčka

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