Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Division of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, MA, USA.
Nat Rev Rheumatol. 2021 May;17(5):257-269. doi: 10.1038/s41584-021-00590-6. Epub 2021 Mar 17.
Chronic inflammatory arthritis in childhood is heterogeneous in presentation and course. Most forms exhibit clinical and genetic similarity to arthritis of adult onset, although at least one phenotype might be restricted to children. Nevertheless, paediatric and adult rheumatologists have historically addressed disease classification separately, yielding a juvenile idiopathic arthritis (JIA) nomenclature that exhibits no terminological overlap with adult-onset arthritis. Accumulating clinical, genetic and mechanistic data reveal the critical limitations of this strategy, necessitating a new approach to defining biological categories within JIA. In this Review, we provide an overview of the current evidence for biological subgroups of arthritis in children, delineate forms that seem contiguous with adult-onset arthritis, and consider integrative genetic and bioinformatic strategies to identify discrete entities within inflammatory arthritis across all ages.
儿童慢性炎症性关节炎的表现和病程存在异质性。虽然至少有一种表型可能仅限于儿童，但大多数形式在临床表现和遗传学上与成人发病的关节炎相似。然而，儿科和成人风湿病学家在历史上分别处理疾病分类，导致幼年特发性关节炎（JIA）的命名法与成人发病的关节炎没有术语重叠。越来越多的临床、遗传和机制数据揭示了这种策略的严重局限性，需要一种新的方法来定义 JIA 中的生物学类别。在这篇综述中，我们概述了目前关于儿童关节炎的生物学亚群的证据，划定了与成人发病的关节炎连续性的形式，并考虑了综合遗传和生物信息学策略，以在所有年龄段的炎症性关节炎中识别不同的实体。
