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[家族性地中海热]

[Familial Mediterranean fever].

作者信息

Leclercq P, Hermesse A, Malaise M G

机构信息

ULg.

出版信息

Rev Med Liege. 2004 May;59(5):320-5.

Abstract

Familial Mediterranean Fever (FMF) is an hereditary disease that especially affects people living around the Mediterranean sea. It is characterized by recurring fever and abdominal pain, eventually associated with localised pleuritis, synovitis or skin inflammation. The most serious complication is amyloidosis, which can lead to terminal renal failure. The attacks and complications can be avoided by life long administration of colchicine. Two independent French and American teams discovered the gene responsible for the disease in 1997. It encodes for a protein named pyrin/marenostrin involved in the homeostasis the inflammatory mechanisms. The main mutations have been identified and are henceforth accessible for molecular screening.

摘要

家族性地中海热(FMF)是一种遗传性疾病,尤其影响生活在地中海周边的人群。其特征为反复发热和腹痛,最终会伴有局部胸膜炎、滑膜炎或皮肤炎症。最严重的并发症是淀粉样变性,可导致终末期肾衰竭。通过终身服用秋水仙碱可避免发作和并发症。1997年,两个独立的法国和美国研究团队发现了导致该病的基因。它编码一种名为吡啶蛋白/海生蛋白的蛋白质,该蛋白质参与炎症机制的稳态。主要突变已被识别,此后可用于分子筛查。

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