Hama Iman, Ilham Ratbi, Ouzeddoun Naima, Alhamany Zaitouna, Bayahia Radia, Sefiani Abdelaziz
Human Genomic Center, Faculty of Medicine and Pharmacy, University Mohammed V Souissi, Rabat, Morocco ; Department of Medical Genomic, National Institute of Health, Rabat, Morocco.
Indian J Hum Genet. 2012 Sep;18(3):363-5. doi: 10.4103/0971-6866.108043.
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.
家族性地中海热（FMF，MIM 249100）是一种常染色体隐性疾病，主要影响地中海盆地的患者。它是一种自身炎症性周期性疾病，其特征为发热、腹痛、滑膜炎和胸膜炎反复发作。FMF的主要并发症是肾AA型淀粉样变性的发生。秋水仙碱治疗可预防癫痫复发和肾淀粉样变性的发生。该疾病由MEFV基因突变引起。我们在此报告两例无关患者的病例，他们被延迟诊断为并发肾淀粉样变性的FMF。我们着重强调FMF早期诊断的重要性，以便迅速开始秋水仙碱治疗并避免肾淀粉样变性，同时为家庭提供遗传咨询。
