Efthimiou Petros, Petryna Olga, Nakasato Priscila, Kontzias Apostolos
New York Rheumatology Care, Ross University School of Medicine, New York, USA.
NYU Grossman School of Medicine, New York, NY, USA.
Ther Adv Musculoskelet Dis. 2022 Sep 3;14:1759720X221117880. doi: 10.1177/1759720X221117880. eCollection 2022.
Autoinflammatory diseases are disorders of the innate immune system, which can be either monogenic due to a specific genetic mutation or complex multigenic due to the involvement of multiple genes. The aim of this review is to explore and summarize the recent advances in pathogenesis, diagnosis, and management of genetically complex autoinflammatory diseases, such as Schnitzler's syndrome; adult-onset Still's disease; synovitis, acne, pustulosis, hyperostosis, osteitis syndrome/chronic recurrent multifocal osteomyelitis/chronic non-bacterial osteomyelitis; Adamantiades-Behçet's disease; Yao syndrome; and periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome. The PubMed database was screened for relevant articles using free text words and specific search strings. The search was limited to English-language articles, reporting the results of studies in humans, published through March 2021. Evidence from literature suggest that these rare multigenic autoinflammatory diseases can present with different clinical features and the diagnosis of these diseases can be challenging due to a combination of nonspecific manifestations that can be seen in a variety of other conditions. Diagnostic delays and disease complications may occur due to low disease awareness and the lack of pathognomonic markers. The pathogeneses of these diseases are complex and in some cases precise pathogenesis is not clearly understood. Conventional treatments are commonly used for the management of these conditions, but biologics have shown promising results. Biologics targeting proinflammatory cytokines including IL-1, IL-6, TNF-α, IL-17A and IL-18 have been shown to ameliorate signs and symptoms of different multigenic autoinflammatory diseases.
自身炎症性疾病是先天性免疫系统的紊乱，其可能是由于特定基因突变导致的单基因疾病，也可能是由于多个基因参与而形成的复杂多基因疾病。本综述的目的是探讨和总结遗传性复杂自身炎症性疾病（如施尼茨勒综合征、成人斯蒂尔病、滑膜炎、痤疮、脓疱病、骨肥厚、骨炎综合征/慢性复发性多灶性骨髓炎/慢性非细菌性骨髓炎、贝赫切特病、姚综合征以及周期性发热伴口疮性口炎、咽炎和腺炎综合征）在发病机制、诊断和治疗方面的最新进展。使用自由文本词和特定搜索字符串在PubMed数据库中筛选相关文章。搜索仅限于英文文章，报道的是截至2021年3月发表的人类研究结果。文献证据表明，这些罕见的多基因自身炎症性疾病可表现出不同的临床特征，并且由于在多种其他疾病中也可见到非特异性表现的组合，这些疾病的诊断可能具有挑战性。由于疾病认知度低和缺乏特征性标志物，可能会出现诊断延迟和疾病并发症。这些疾病的发病机制复杂，在某些情况下，确切的发病机制尚不清楚。传统治疗方法通常用于管理这些疾病，但生物制剂已显示出有前景的结果。靶向促炎细胞因子（包括白细胞介素-1、白细胞介素-6、肿瘤坏死因子-α、白细胞介素-17A和白细胞介素-18）的生物制剂已被证明可改善不同多基因自身炎症性疾病的体征和症状。
