Puthanveetil Dhrushith Ettakkepraven, Subhash Vivek Panoor, Kannu Ansari Noohu, Kavalakkatt Kevin
Department of Orthopaedics, Government Medical College Trivandrum, Kerala, India.
J Orthop Case Rep. 2024 Dec;14(12):154-158. doi: 10.13107/jocr.2024.v14.i12.5056.
Alkaptonuria is a rare metabolic disorder that follows an autosomal recessive genetic inheritance pattern. It is distinguished by the buildup of homogentisic acid in tissues due to deficient homogentisic acid oxidase enzyme activity. The excess homogentisic acid is expelled through urine, darkening it on oxidation. Moreover, it deposits in connective tissues, imparting a characteristic blue-black pigmentation. This condition is known as Ochronosis or black bone disease. This accumulation over time renders cartilage brittle, potentially leading to ochronotic arthropathy.
A 46-year-old lady presented with long-standing bilateral knee pain for 8 years with a predominant focus on the right side. Recurrent swelling and pain episodes in the right knee were noted, occurring without significant traumatic events. Despite various conservative treatments attempted to alleviate her knee pain, the patient experienced minimal relief. On examination, the patient demonstrated difficulty in ambulating, with severe tenderness along the joint line and a restricted range of motion. Standing knee X-rays revealed severe tricompartmental osteoarthritis and a correctable valgus deformity of 5. She underwent total knee replacement. A provisional diagnosis of ochronosis was made intraoperatively, later confirmed on histopathological examination of the tissue, and the patient was evaluated retrospectively.
Ochronotic arthropathies are rare conditions- characterized by articular cartilage damage. They are typically diagnosed post-surgery, often when surgeons observe the dark coloration of cartilage. However, joint replacement surgery can safely and effectively manage these conditions, leading to favorable outcomes, including improved functionality, pain alleviation, and heightened patient satisfaction.
黑尿症是一种罕见的代谢紊乱疾病,遵循常染色体隐性遗传模式。其特征是由于尿黑酸氧化酶活性不足,导致组织中尿黑酸积聚。过量的尿黑酸通过尿液排出,尿液氧化后会变黑。此外,它沉积在结缔组织中,呈现出特有的蓝黑色色素沉着。这种情况被称为褐黄病或黑骨病。随着时间的推移,这种积累会使软骨变脆,可能导致褐黄病性关节病。
一名46岁女性因双侧膝关节长期疼痛8年就诊,主要集中在右侧。右侧膝关节反复出现肿胀和疼痛发作,发作时无明显外伤事件。尽管尝试了各种保守治疗来缓解她的膝关节疼痛,但患者缓解甚微。检查时,患者行走困难,关节线处有严重压痛,活动范围受限。站立位膝关节X线片显示严重的三关节间骨关节炎和5度可纠正的外翻畸形。她接受了全膝关节置换术。术中初步诊断为褐黄病,术后组织病理检查确诊,对患者进行了回顾性评估。
褐黄病性关节病是罕见的疾病,其特征是关节软骨损伤。它们通常在手术后诊断,通常是外科医生观察到软骨颜色变黑时。然而,关节置换手术可以安全有效地治疗这些疾病,带来良好的效果,包括改善功能、减轻疼痛和提高患者满意度。