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成人孤立性复发性胸膜炎揭示家族性地中海热。

Isolated recurrent pleuritis revealing familial mediterranean Fever in adulthood.

机构信息

Reference Center for Rare Pulmonary Diseases, Department of Respiratory Medicine, Louis Pradel Hospital, Claude Bernard University (Lyon I), Lyon, France.

出版信息

Respiration. 2010;79(6):508-10. doi: 10.1159/000272314. Epub 2009 Dec 24.

Abstract

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease especially affecting populations of Mediterranean origin with an autosomal recessive inheritance. The cardinal manifestations consist of short febrile and painful attacks of peritonitis, arthritis and pleuritis developing during childhood. We report the case of a 26-year-old man of Tunisian descent who had febrile episodes of right-sided pleuritis without any extrathoracic complaints. Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene.

摘要

家族性地中海热(FMF)是一种遗传性自身炎症性疾病,主要影响地中海地区人群,呈常染色体隐性遗传。其主要表现为儿童时期反复发作的短暂发热和疼痛性腹膜炎、关节炎和胸膜炎。我们报告了一例 26 岁的突尼斯裔男性患者,他有右侧胸膜炎的发热发作,无任何胸外症状。秋水仙碱(1 毫克/天)单剂量治疗后发作消失,进一步支持非典型 FMF 的推测诊断,基因检测确定 MEFV 基因的纯合突变 M694I/M694I 进一步证实了这一诊断。

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