Ontology highlight
ABSTRACT:
SUBMITTER: Hama I
PROVIDER: S-EPMC3656531 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Hama Iman I Ilham Ratbi R Ouzeddoun Naima N Alhamany Zaitouna Z Bayahia Radia R Sefiani Abdelaziz A
Indian journal of human genetics 20120901 3
Familial Mediterranean fever (FMF, MIM 249100) is an autosomal recessive disease affecting mainly patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The major complication of FMF is the development of renal AA amyloidosis. Treatment with colchicine prevents the occurrence of recurrent seizures and renal amyloidosis. The disease is caused by mutations in the MEFV gene. We repor ...[more]