Shashaa Mohammad Nour, Alkarrash Mohamad Shadi, Alhasan Yusuf, Kabbany Saad Allah, Rezkallah Vairy, Alhamr Alaa, Al-Araje M Maher
Departments ofOrthopedic and Traumatic Surgery.
Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Ann Med Surg (Lond). 2024 Jan 29;86(5):3009-3012. doi: 10.1097/MS9.0000000000001775. eCollection 2024 May.
Alkaptonuria is an autosomal extremely rare recessive metabolic disorder with incidence reported to occur as 1:100 000-1:250 000 live births worldwide. This rare metabolic disorder is characterized by the accumulation of homogentisic acid due to a deficiency in homogentisic acid 1,2 dioxygenase. Homogentisic acid subsequently oxidizes and accumulates in the connective tissue. The knee is the most significant peripheral joint to be affected by the disorder. The authors present the first case of ochronotic arthropathy in Syria.
A 46-year-old male presented with bilateral pain in the knees. the pain was affecting his day-to-day activities, and not responding to conservative management. Anteroposterior standing radiographs demonstrated extensive degenerative disease. Intraoperatively, the diagnosis was done after noticing that the quadriceps tendon and the articular cartilage of the femur, tibia, and patella were blackened during cemented total knee replacement of the knee.
Ochronotic arthropathy should be kept in mind in middle age patients with severe osteoarthritis to not be surprised by the rare alkaptonuria diagnosis if arthroplasty was indicated.
黑尿症是一种常染色体隐性遗传的极为罕见的代谢紊乱疾病，据报道，其在全球活产婴儿中的发病率为1:100000 - 1:250000。这种罕见的代谢紊乱疾病的特征是由于尿黑酸1,2 - 双加氧酶缺乏导致尿黑酸积累。尿黑酸随后氧化并在结缔组织中积聚。膝关节是受该疾病影响最严重的外周关节。作者报告了叙利亚首例褐黄病性关节病病例。
一名46岁男性因双膝关节疼痛就诊。疼痛影响了他的日常活动，且对保守治疗无反应。站立位前后位X线片显示广泛的退行性病变。术中，在进行膝关节骨水泥全膝关节置换时，发现股四头肌肌腱以及股骨、胫骨和髌骨的关节软骨变黑后做出了诊断。
对于患有严重骨关节炎的中年患者，应考虑到褐黄病性关节病，以便在需要进行关节置换术时，不会因罕见的黑尿症诊断而感到意外。
