Familiar Mediterranean fever in Czech Republic

Česká verzia

Authors: Anna Šedivá ¹; Viktor Maňásek ²; Andrea Gřegořová ³; Pavlína Plevová ³; Nataša Toplak ⁴; Maruša Debeljak ⁴
Authors place of work: Ústav imunologie 2. LF UK a FN Motol, Praha, přednostka prof. MUDr. Jiřina Bartůňková, DrSc. ¹; Komplexní onkologické centrum, Nemocnice Nový Jičín a. s., vedoucí doc. MUDr. Renata Soumarová, Ph. D., MBA ²; oddělení lékařské genetiky FN Ostrava, primářka MUDr. Eva Šilhánová ³; Laboratorij za genetiko, Služba za alergologijo, revmatologijo in klinično imunologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Slovenia, prof. dr. Tadej Avčin, dr. med ⁴
Published in the journal: Vnitř Lék 2014; 60(1): 25-29
Category: Original Contributions

Summary

Familiar Mediterranean fever (FMF) is a well defined autosomal recessive disease occurring mostly in Mediterranean regions. Here we present the experience from one center from Czech Republic, where we follow 4 families with patients with genetically proven FMF. Three out of these 4 families cluster to one limited region in Moravia, in the heart of Europe, without any linkage to Mediterranean origin. Furthermore, majority of these patients are heterozygots presenting with well defined typical clinical symptoms. Potential pseudodominant inheritance and/or epigenetic and environmental factors might influence clinical presentation of the disease.

Key words:
clinical presentation – epigenetic environmental influence on clinical presentation – epigenetic influence on clinical presentation – heterozygous patients – familiar mediterranean fever

Zdroje

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