Sedivá A, Horváth R, Maňásek V, Gregorová A, Plevová P, Horáčková M, Tesařová M, Toplak N, Debeljak M
Department of Immunology, Charles University, 2nd School of Medicine, Faculty Hospital Motol, Prague, Czech Republic.
Clin Genet. 2014 Dec;86(6):564-9. doi: 10.1111/cge.12323. Epub 2013 Dec 20.
Familial Mediterranean fever (FMF) is a well-described monogenic autosomal recessive disorder with highest occurrence in the Mediterranean region. In this article, we describe the experience of a center in the Czech Republic that follows four families with members bearing mutations in MEFV gene without provable ancestry from the Mediterranean region. We also discuss the clinical picture of the heterozygous variants that were present in our cohort. The typical clinical presentation in heterozygotes corresponds to data described in the international literature. The possibility of combination of mutations and/or polymorphisms in different genes and epigenetic or environmental influences on the clinical symptoms are taken into account.
家族性地中海热（FMF）是一种已被充分描述的单基因常染色体隐性疾病，在地中海地区发病率最高。在本文中，我们描述了捷克共和国一个中心的经验，该中心跟踪了四个家族，这些家族成员携带MEFV基因突变，但无法证明其有地中海地区的血统。我们还讨论了我们队列中存在的杂合变异的临床情况。杂合子的典型临床表现与国际文献中描述的数据一致。我们考虑了不同基因中突变和/或多态性的组合可能性，以及表观遗传或环境对临床症状的影响。
