■威尔逊病(WD)是一种罕见的遗传性疾病,其特征是铜在体内积累,导致一系列健康问题,比如肝脏疾病,神经紊乱,和精神疾病。近年来,越来越多的人认识到WD也会导致骨关节缺损。研究揭示了WD导致这些发现的潜力,在某些情况下,可进展为骨关节炎和持续性疼痛。然而,WD导致骨软骨缺损的确切病理生理过程尚不清楚.
■我们介绍一例30岁男性,诊断为WD,表现出肌肉骨骼症状。患者病史提示慢性间歇性膝关节疼痛。放射学和磁共振成像(MRI)研究显示,严重的骨软骨损伤伴有严重的软骨裂隙。本报告回顾了WD骨科病理学的拟议病理生理学,提供了最新的文献综述,并为管理提供临床建议。讨论了包括非手术选择和手术在内的治疗选择。
■此案例强调了确定WD的骨科表现的重要性,即使没有经典的体征和症状。任何怀疑患有骨关节缺损的WD患者都应进行彻底评估,启动成像研究的阈值较低。此外,治疗计划应根据患者的具体情况量身定制,强调个性化患者护理的重要性。这个案例突出了WD的关键发现,并提供了重要的见解,特别是关于WD骨关节缺损的临床相关性,非手术和手术治疗的潜在应用,以及个性化患者护理在WD管理中的重要性。
UNASSIGNED: Wilson\'s disease (WD) is a rare genetic disorder characterized by copper accumulation in the body, leading to a spectrum of health issues, such as liver disease, neurological disturbances, and psychiatric disorders. In recent years, there has been increasing recognition that WD can also result in osteoarticular defects. Research has shed light on the potential of WD to cause these findings, which in some instances, can progress to osteoarthritis and persistent pain. However, the exact pathophysiological process through which WD leads to osteochondral defects remains unclear.
UNASSIGNED: We present a
case of a 30-year-old male diagnosed with WD exhibiting musculoskeletal symptoms. The patient\'s medical history revealed chronic intermittent knee pain. Radiographic and magnetic resonance imaging (MRI) studies revealed a substantial osteochondral lesion with high-grade chondral fissuring. This report reviews the proposed pathophysiology of orthopedic pathology in WD, offers an updated literature review, and provides clinical recommendations for management. Treatment options including nonsurgical options and surgery are discussed.
UNASSIGNED: This
case underscores the significance of identifying the orthopedic manifestations of WD, even in the absence of classic signs and symptoms. Any WD patient suspected of having osteoarticular defects should be thoroughly evaluated, with a low threshold for initiating imaging studies. Moreover, treatment plans should be tailored to the patient\'s specific presentation, emphasizing the importance of individualized patient care. This
case highlights key findings in WD and provides important insights, particularly on the clinical relevance of osteoarticular defects in WD, the potential application of nonsurgical and surgical treatments, and the importance of individualized patient care in the management of WD.