Indian Journal of Human Genetics
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CASE REPORT
Year : 2012  |  Volume : 18  |  Issue : 3  |  Page : 363-365

Renal amyloidosis due to familial Mediterranean fever misdiagnosed


1 Human Genomic Center, Faculty of Medicine and Pharmacy, University Mohammed V Souissi, Rabat; Department of Medical Genomic, National Institute of Health, Rabat, Morocco
2 Department of Medical Genomic, National Institute of Health, Rabat, Morocco
3 Unit of Nephrology-Dialysis-Renal Transplantation, Ibn Sina University Hospital, Faculty of Medicine, Mohammed V University, Rabat, Morocco
4 Laboratory of Pathologic Anatomy, Children Hospital, Ibn Sina University Hospital, Rabat, Morocco

Correspondence Address:
Iman Hama
Department of Medical Genetics, National Institute of Health - 27, Avenue Ibn Batouta, B. P. 769 Rabat
Morocco
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.108043

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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.


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