Pôle de pathologies rhumatismales systémiques et inflammatoires (RUMA), Institut de Recherche Expérimentale et Clinique (IREC), Université catholique de Louvain, Brussels, Belgium.
Pediatric Immunology and Rheumatology Division, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.
Eur J Pediatr. 2024 Nov 27;184(1):48. doi: 10.1007/s00431-024-05823-w.
Chronic non-bacterial osteomyelitis (CNO) is caused by aseptic inflammation of bones, primarily driven by the innate immune system. CNO may display different clinical presentations (acute vs chronic, uni- vs multifocal) and is accompanied by other inflammatory disorders in up to a third of patients. Once considered a rare disorder, it has become clear that many patients were underdiagnosed. With increasing awareness and the development of total-body MRI protocols, CNO recognition and diagnosis have greatly improved. Our knowledge of the clinical manifestations and outcomes of CNO has been refined in recent years, especially thanks to the recruitment of large international series. Similarly, new insights into the pathogenesis have been gained by the development of mice models and identification of rare monogenic diseases that resemble CNO. Unfortunately, these advances have not been paralleled in the therapeutic management. In the absence of prospective controlled trials, therapeutic strategies still rely on low-level evidence studies. About half of the patients respond to first-line therapies, but a more refractory and/or chronic disease course requires additional treatments. This narrative review aims to provide the practicing physician with an update on CNO pathogenesis, clinical presentation, associated inflammatory conditions, and diagnostic investigations, and includes a concise summary of current therapeutic recommendations.
While major progresses have been made in the recognition and management of CNO, significant challenges remain, in particular regarding the treatment of refractory patients, and those with associated inflammatory disorders.
• Many physicians caring for children will encounter patients suffering of (suspected) CNO. CNO diagnosis requires exclusion of numerous conditions included in the differential diagnosis, which may be challenging.
• We provide an updated review of recent findings in the field CNO, including imaging and diagnostic strategies, associated inflammatory diseases and long-term outcomes data. • We focus particularly on the challenges encountered by clinicians in the diagnosis and treatment of these patients. • We highlight knowledge gaps in the understanding and treatment of CNO, that should stimulate future research.
慢性非细菌性骨髓炎（CNO）由骨骼无菌性炎症引起，主要由固有免疫系统驱动。CNO 可能表现出不同的临床表现（急性与慢性、单灶与多灶），并且在多达三分之一的患者中伴有其他炎症性疾病。曾经被认为是一种罕见疾病，但现在已经清楚许多患者都被漏诊了。随着人们认识的提高和全身 MRI 方案的发展，CNO 的识别和诊断已经大大改善。近年来，我们对 CNO 的临床表现和结局的认识已经得到了完善，特别是由于招募了大量的国际系列研究。同样，通过开发小鼠模型和鉴定类似于 CNO 的罕见单基因疾病，我们对发病机制也有了新的认识。不幸的是，这些进展在治疗管理方面并没有得到同步。由于缺乏前瞻性对照试验，治疗策略仍然依赖于低水平证据研究。大约一半的患者对一线治疗有反应，但更具难治性和/或慢性疾病需要额外的治疗。本综述旨在为临床医生提供 CNO 发病机制、临床表现、相关炎症性疾病和诊断研究的最新信息，并简要总结当前的治疗建议。
尽管在 CNO 的识别和管理方面取得了重大进展，但仍存在重大挑战，特别是对于难治性患者和伴有相关炎症性疾病的患者。
许多照顾儿童的医生都会遇到患有（疑似）CNO 的患者。CNO 的诊断需要排除许多鉴别诊断中的疾病，这可能具有挑战性。
我们提供了 CNO 领域的最新发现的综述，包括影像学和诊断策略、相关炎症性疾病和长期结局数据。我们特别关注临床医生在诊断和治疗这些患者时遇到的挑战。我们强调了在理解和治疗 CNO 方面的知识空白，这应该会激发未来的研究。
