Department of Radiology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat, Barcelona, Spain.
Department of Medical Imaging, University of Toronto, Toronto, ON, Canada.
Pediatr Radiol. 2020 Mar;50(3):431-444. doi: 10.1007/s00247-019-04544-9. Epub 2020 Feb 17.
Autoinflammatory diseases are a family of disorders characterized by aberrant stimulation of inflammatory pathways without involvement of antigen-directed autoimmunity. They can be further divided in monogenic and polygenic types. Those without an identified genetic mutation are known as polygenic and include systemic-onset juvenile idiopathic arthritis, idiopathic recurrent acute pericarditis, Behçet syndrome, chronic recurrent multifocal osteomyelitis and inflammatory bowel disease among others. Autoinflammatory diseases are characterized by recurrent flares or persistent systemic inflammation and fever, as well as lymphadenopathy and cutaneous, abdominal, thoracic and articular symptoms. Although these syndromes can mimic infections clinically, the inflammatory lesions in autoinflammatory disorders are aseptic. However, because of their infrequency, varied and nonspecific presentation, and the new genetic identification, diagnosis is usually delayed. In this article, which is Part 2 of a two-part series, the authors review the main polygenic autoinflammatory diseases that can be seen in childhood, with special emphasis wherever applicable on imaging features that may help establish the correct diagnosis. However, the major role of imaging is to delineate organ involvement and disease extent.
自身炎症性疾病是一组疾病，其特征为炎症途径异常激活，而无抗原导向的自身免疫参与。它们可以进一步分为单基因和多基因类型。那些没有确定基因突变的被称为多基因，包括全身发作性幼年特发性关节炎、特发性复发性急性心包炎、贝赫切特综合征、慢性复发性多灶性骨髓炎和炎症性肠病等。自身炎症性疾病的特征是反复出现的发作或持续的全身炎症和发热，以及淋巴结病和皮肤、腹部、胸部和关节症状。尽管这些综合征在临床上可能类似于感染，但自身炎症性疾病中的炎症病变是无菌的。然而，由于其罕见性、多样化和非特异性表现以及新的遗传鉴定，诊断通常会被延迟。在这篇由两部分组成的系列文章的第 2 部分中，作者回顾了可在儿童期见到的主要多基因自身炎症性疾病，并特别强调了在适用的情况下有助于确立正确诊断的影像学特征。然而，影像学的主要作用是描绘器官受累和疾病范围。
