兄弟姐妹同时患上慢性非细菌性骨髓炎

IF 0.9 Q4 RHEUMATOLOGY Modern rheumatology case reports Pub Date : 2024-08-03 DOI:10.1093/mrcr/rxae035
Jenny A Patel, Kristen B Thomas, Elizabeth H Ristagno, Matthew L Basiaga
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引用次数: 0

摘要

慢性非细菌性骨髓炎(CNO)是一种不常见的自身炎症性疾病。为了更好地定义和治疗这种疾病,人们最近花费了大量精力,包括制定共识治疗方案、验证疾病活动性工具和完善分类标准。然而,这种疾病的潜在免疫发病机制仍然难以捉摸。在本报告中,我们描述了兄弟姐妹同时患上 CNO 的病例。我们没有发现致病基因突变,而且这对姐妹缺乏类似的生物标志物特征。本报告强调,如果存在 CNO 遗传易感性,那么它可能与复杂的多基因或多因素疾病演变机制有关。
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Simultaneous onset of chronic nonbacterial osteomyelitis in siblings.

Chronic nonbacterial osteomyelitis (CNO) is an uncommon autoinflammatory disorder. Significant effort has recently been spent to better define and treat this disorder including development of consensus treatment protocols, validate disease activity tools, and refining classification criteria. However, the underlying immunopathogenesis of the disease remains elusive. In this report, we describe the simultaneous onset of CNO in siblings. A pathogenic gene mutation was not identified, and these sisters lacked a similar biomarker profile. This report highlights that if a genetic predisposition for CNO exists, it may be related to complex polygenic or multifactorial mechanisms of disease evolution.

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