Familial Mediterranean fever: clinical, molecular and management advancements.
Familial Mediterranean fever: clinical, molecular and management advancements.
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发表时间：
2007-10
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通讯作者：
M. Lidar;A. Livneh
中科院分区：
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作者：
M. Lidar;A. Livneh
家族性地中海热（FMF）是最常见的周期性发热综合征，是一种常染色体隐性遗传疾病，主要影响地中海血统的人。这种疾病是由MEFV基因突变引起的，MEFV基因编码的pyrin蛋白被认为与白细胞介素-1相关的炎症级联反应有关。该病症表现为浆膜炎的发作，通常累及腹部、胸部或关节，通常伴有发热和急性期反应物升高。发作会在一到三天内自然消退，没有残留物。秋水仙碱的持续治疗，每日剂量为1至2毫克，减少了大多数患者的发作频率，持续时间和强度，还防止了继发性淀粉样变性的发展，这是该疾病最可怕的并发症。在这篇文章中，我们回顾了FMF患者诊断和护理的最新进展，从一个典型病例开始。
Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an autosomal recessive disease, predominantly affecting people of Mediterranean descent. The disease is caused by mutations in the MEFV gene, encoding the pyrin protein thought to be associated with the interleukin-1 related inflammation cascade. The condition manifests as attacks of serositis, commonly involving the abdomen, chest or joints, typically accompanied by fever and elevated acute phase reactants. Attacks subside spontaneously within one to three days, without residue. Continuous treatment with colchicine, at a daily dose of 1 to 2 mg, reduces attack frequency, duration and intensity in the majority of patients, and also prevents the development of secondary amyloidosis, the most dreaded complication of the disease. In this communication we review the current state of the art in the diagnosis and care of FMF patients, starting with the presentation of a typical case.