Yeo Liching, Naheed Asma, Richards Chantelle, Ciurtin Coziana
Department of Paediatrics, Homerton University Hospital, London E9 6SR, UK.
Department of Paediatric Rheumatology, Great Ormond Street Hospital, London WC1N 3JH, UK.
Int J Mol Sci. 2024 Dec 22;25(24):13704. doi: 10.3390/ijms252413704.
Childhood-onset antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) represents a heterogeneous group of multi-system autoimmune conditions associated with chronic inflammation, characteristically affecting small blood vessels, leading to various organ and system manifestations. Although rare in paediatric populations, AAV poses challenges in early recognition, diagnosis and management of refractory cases. This review highlights the characteristics of clinical presentation and outcomes of AAV in children, as well as its current classification and progress achieved in understanding the disease pathogenesis, with a focus on adult and paediatric genetic studies. Furthermore, we discuss the management of AAV in children, as well as new emerging therapies and future research needs, while proposing a potential algorithm for a childhood-onset-AAV therapeutic approach based on the disease phenotype.
儿童期起病的抗中性粒细胞胞浆抗体（ANCA）相关血管炎（AAV）是一组异质性的多系统自身免疫性疾病，与慢性炎症相关，其特征是影响小血管，导致各种器官和系统表现。虽然AAV在儿科人群中罕见，但在难治性病例的早期识别、诊断和管理方面存在挑战。本综述重点介绍了儿童AAV的临床表现和预后特征，以及其当前分类和在疾病发病机制理解方面取得的进展，重点关注成人和儿科遗传学研究。此外，我们讨论了儿童AAV的管理、新兴疗法和未来研究需求，同时基于疾病表型提出了一种儿童期起病AAV治疗方法的潜在算法。
