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幼年发病型贝赫切特综合征及其伴发疾病。

Juvenile-onset Behçet's syndrome and mimics.

机构信息

Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.

出版信息

Clin Immunol. 2020 May;214:108381. doi: 10.1016/j.clim.2020.108381. Epub 2020 Mar 10.

Abstract

Behçet's syndrome (BS) presents in childhood in up to 20% of reported cases. Diagnosis is clinical and multiple classification criteria have been developed. Presentation is heterogenous with recurrent oral ulceration often being the presenting feature. Mucocutaneous disease including genital ulceration and skin involvement is a common phenotype. Vascular and neurological manifestations are rarer, particularly in childhood. Musculoskeletal and gastro-intestinal involvement which do not form part of commonly used classification criteria, appear more frequent in children. Treatment approaches are extrapolated from studies of adult onset disease. The pathogenesis of BS is not well defined although dysregulation in both innate and adaptive immune systems, together with abnormal antigen presentation have been described. The recent discovery of monogenic mimics of BS requires further genetic studies to understand the burden of monogenic autoinflammatory conditions affecting those with a BS phenotype.

摘要

贝切特综合征(BS)在儿童中占报告病例的 20%。诊断基于临床表现,且已经制定了多种分类标准。该病表现多样,常以复发性口腔溃疡为首发症状。黏膜皮肤病变常见,包括生殖器溃疡和皮肤损害。血管和神经系统表现则较为少见,尤其是在儿童中。骨骼肌肉和胃肠道受累虽不属于常用的分类标准,但在儿童中更为常见。治疗方法是从成人发病的研究中推断而来。BS 的发病机制尚不清楚,尽管已描述了固有和适应性免疫系统失调以及异常抗原呈递。最近发现 BS 的单基因类似物需要进一步的遗传研究,以了解影响具有 BS 表型人群的单基因自身炎症性疾病的负担。

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