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复发性多软骨炎与家族性地中海热的相关性。

Relapsing polychondritis and familial Mediterranean fever--an association.

机构信息

Division of Rheumatology, Department of Internal Medicine D, Kaplan Medical Center affiliated with the Hebrew University School of Medicine, POB 1, Rehovot, Israel.

出版信息

Clin Rheumatol. 2011 May;30(5):711-3. doi: 10.1007/s10067-010-1673-2. Epub 2011 Jan 18.

Abstract

Relapsing polychondritis (RP) and familial Mediterranean fever (FMF) are systemic inflammatory disorders with seemingly distinct genetic and pathophysiologic mechanisms. An association between these disorders has been described based on a single case report with few clinical details available. We recently encountered a patient with biopsy-proven RP and genetically confirmed FMF. Following identification of this individual, we conducted a retrospective review of all cases of RP in our institution from 2000-2009 and identified one additional patient with RP who is also a genetic heterozygote for FMF. These cases highlight the previously reported but sparsely documented relationship between these seemingly separate disorders.

摘要

复发性多软骨炎(RP)和家族性地中海热(FMF)是两种系统性炎症性疾病,它们具有明显不同的遗传和病理生理机制。基于一份仅有少量临床细节的个案报告,已经描述了这两种疾病之间存在关联。我们最近遇到了一位经活检证实为 RP 且 FMF 基因确诊的患者。在确定了该个体后,我们对我们机构 2000-2009 年所有 RP 病例进行了回顾性审查,发现了另一名也是 FMF 基因杂合子的 RP 患者。这些病例突出了之前报道但记录很少的这两种看似独立疾病之间的关系。

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