Drakoulakis Emmanouil, Varvitsiotis Dimitrios, Psarea Georgioss, Feroussis John
Asclepieion Voulas, Athens, Greece.
Am J Orthop (Belle Mead NJ). 2012 Feb;41(2):80-3.
Alkaptonuria, a rare hereditary metabolic disorder, is characterized by accumulation of homogentisic acid in the connective tissues resulting from lack of the enzyme homogentisic acid oxidase. Ochronosis, dark pigmentation of connective tissues, is the musculoskeletal manifestation of alkaptonuria. In this article, we report the case of a 53-year-old man who had ochronotic arthropathy and advanced degenerative changes in the shoulders managed with bilateral total shoulder arthroplasty. Three-year follow-up results were satisfactory: good range of motion, no pain, and no signs of prosthesis loosening. Shoulder function was significantly improved after surgery, as documented by Constant scores. This case suggests that shoulder prosthesis results are not affected by alkaptonuria.
黑尿症是一种罕见的遗传性代谢紊乱疾病，其特征是由于缺乏尿黑酸氧化酶，导致结缔组织中尿黑酸积聚。褐黄病，即结缔组织的色素沉着，是黑尿症的肌肉骨骼表现。在本文中，我们报告了一例53岁男性患者的病例，该患者患有褐黄病性关节病，肩部出现晚期退行性改变，接受了双侧全肩关节置换术治疗。三年的随访结果令人满意：活动范围良好，无疼痛，且无假体松动迹象。如康斯坦特评分所示，术后肩部功能显著改善。该病例表明，黑尿症不影响肩关节假体置换的效果。
