Abstract:
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.
摘要:
慢性非细菌性骨髓炎(CNO)是一种罕见的自身炎症性疾病。最近花费了大量的努力来更好地定义和治疗这种疾病,包括制定共识治疗方案。验证疾病活动工具,完善分类标准。然而,该疾病的潜在免疫发病机制仍然难以捉摸。在这份报告中,我们描述了兄弟姐妹中CNO的同时发作。未发现致病基因突变,这些姐妹缺乏相似的生物标志物。这份报告强调,如果存在CNO的遗传易感性,它可能与疾病演变的复杂多基因或多因素机制有关。