title: Renal amyloidosis due to familial mediterranean fever misdiagnosed.
abstract: 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 report here the cases of two unrelated patients, who have been late diagnosed with FMF complicated by renal amyloidosis. We focus on the importance of early diagnosis of FMF, both to start rapidly treatment with colchicine and avoid renal amyloidosis, and to provide genetic counseling to families.
authors.affiliation: Human Genomic Center, Faculty of Medicine and Pharmacy, University Mohammed V Souissi, Rabat, Morocco ; Department of Medical Genomic, National Institute of Health, Rabat, Morocco.
authors.forename: Iman
authors.initials: I
authors.lastname: Hama
authors.forename: Ratbi
authors.initials: R
authors.lastname: Ilham
authors.forename: Naima
authors.initials: N
authors.lastname: Ouzeddoun
authors.forename: Zaitouna
authors.initials: Z
authors.lastname: Alhamany
authors.forename: Radia
authors.initials: R
authors.lastname: Bayahia
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
keywords: Amyloidosis; MEFV gene; diagnosis; familial mediterranean fever; mutations