踝关节大骨节病的病理机制、诊断与治疗进展综述

A Review of the Pathological Mechanisms, Diagnosis, and Treatment Advances of Ankle Kashin-Beck Disease

摘要: 踝关节大骨节病(Kashin-Beck disease, KBD)是一种主要影响儿童和青少年的地方性骨关节疾病，其特点是关节软骨和骨骼的退行性病变，严重影响患者的生活质量。近年来，随着对该病研究的深入，其流行病学特征、病理机制及临床表现逐渐被揭示，但具体的发病机制仍不完全明确。目前认为，环境因素(如低硒、真菌毒素污染)与遗传易感性共同作用可能是导致KBD发生的重要原因。在诊断方面，影像学技术的进步为早期识别和病情评估提供了重要工具，但仍缺乏特异性的生物标志物。治疗上，尽管现有的药物和手术干预能够缓解症状，但尚无根治方法。本文综述了踝关节大骨节病的最新研究进展，旨在为临床实践提供参考，并探讨未来研究的可能方向。

Abstract: Ankle Kashin-Beck disease (KBD) is an endemic osteoarticular disorder that primarily affects children and adolescents, characterized by degenerative changes in articular cartilage and bone, which significantly impair patients’ quality of life. In recent years, with the deepening of research on this disease, its epidemiological features, pathological mechanisms, and clinical manifestations have been increasingly elucidated. However, the exact pathogenesis remains incompletely understood. Current evidence suggests that the interaction between environmental factors (such as selenium deficiency and mycotoxin contamination) and genetic susceptibility may play a crucial role in the onset of KBD. In terms of diagnosis, advances in imaging techniques have provided important tools for early detection and disease assessment, yet specific biomarkers are still lacking. Regarding treatment, although existing pharmacological and surgical interventions can alleviate symptoms, there is currently no curative therapy. This review summarizes the latest research advances in ankle Kashin-Beck disease, aiming to provide guidance for clinical practice and to explore potential directions for future research.