Bakkaloglu Aysin
Department of Pediatrics, Pediatric Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Pediatr Nephrol. 2003 Sep;18(9):853-9. doi: 10.1007/s00467-003-1185-2. Epub 2003 Jun 27.
Familial Mediterranean fever (FMF) is the most frequent periodic syndrome characterized by recurrent attacks of polyserositis. Fever, abdominal pain, chest pain, and arthritis/arthralgia are the leading symptoms. It is an autosomal recessive disorder, which primarily affects Jewish, Armenian, Turkish, and Arab populations. The FMF gene ( MEFV) has recently been cloned to chromosome 16p, which encodes pyrin. Genotype-phenotype correlation is not well established. Amyloidosis is the most severe complication of FMF. The SAA1-alpha/alpha genotype was associated with an increased risk of amyloidosis. Colchicine treatment not only decreases the frequency and severity of attacks, but also prevents amyloidosis. Certain vasculitides, namely Henoch-Schonlein purpura and polyarteritis nodosa, are more frequent among FMF patients.
家族性地中海热(FMF)是最常见的周期性综合征,其特征为复发性多浆膜炎发作。发热、腹痛、胸痛和关节炎/关节痛是主要症状。它是一种常染色体隐性疾病,主要影响犹太、亚美尼亚、土耳其和阿拉伯人群。FMF基因(MEFV)最近已被克隆到16号染色体短臂上,该基因编码吡啉。基因型与表型的相关性尚未完全明确。淀粉样变性是FMF最严重的并发症。SAA1-α/α基因型与淀粉样变性风险增加有关。秋水仙碱治疗不仅可降低发作的频率和严重程度,还可预防淀粉样变性。某些血管炎,即过敏性紫癜和结节性多动脉炎,在FMF患者中更为常见。