Familiární středozemní horečka v České republice
[Familiar Mediterranean fever in Czech Republic]
Language Czech Country Czech Republic Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
24564773
PII: 47764
- MeSH
- Adult MeSH
- Familial Mediterranean Fever genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Pedigree MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Europe MeSH
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.