摘要
本文描述了5例在腕-踝关节存在多中心骨质溶解的患者:一名母亲和其因为常染色体显性遗传而同时患病的3名子女,其中1例患有肾病。第5例散发病例的肾脏也受累。在这5例患者身上的共同发现是,其症状与体征都与年轻时发病的腕关节和(或)踝关节炎相似,也类似于青少年特发性关节炎。骨质溶解的早期征象以及腕骨和跗骨的缩短都是影像学的特征。该病还可能存在特殊面容,但最重要的还是肾脏病变。其病理机制至今未知。结论:正确识别本病并和青少年特发性关节炎进行鉴别诊断可以避免不必要的检查和治疗。有必要对肾功能进行随访。
Five patients with multicentric carpal-tarsal osteolysis are presented: a mother and her three children with an auto-somal dominant mode of inheritance and one of the children with nephropathy, the fifth a sporadic case also with renal involvement. The main findings common to these five patients are symptoms and signs simulating arthritis of the wrists and/or ankles starting at a young age and mimicking juvenile idiopathic arthritis. Early signs of osteolysis and shortening of the carpus or tarsus are radiological characteristic. The disease may be associated with a peculiar face, but most importantly with nephropathy. The patho-genesis is still unknown. Conclusion: recognition of this disease and differentiation from juvenile idiopathic arthritis is important to avoid unnecessary investigations and treatment. Follow-up of renal function is indicated.
