Singh Avtar, Thorat Babaji S, Jaspal Atul
Department of Orthopaedics, Amandeep Hospital, Amritsar, Punjab, India.
J Orthop Case Rep. 2024 Feb;14(2):76-81. doi: 10.13107/jocr.2024.v14.i02.4224.
Alkaptonuria is a rare autosomal recessive disorder caused by the defective metabolism of homogentisic acid, with a rare course and remained undetected even until adulthood. Ochronotic arthropathy is one of the manifestations of alkaptonuria, predominantly affecting weight bearing joints such as spine, hip, and knee. Total joint arthroplasty is treatment of choice in end-stage arthritis of hip and knee. Owing to the rarity of the disease, limited data is available in literature regarding surgical challenges and long-term functional outcomes.
Herein, we present a case of 43-year-old male with ochronotic arthropathy of bilateral hip, right knee, and bilateral elbow joints with involvement of spine, who was incidentally diagnosed with ochronotic arthropathy intraoperatively and underwent sequential arthroplasty for right hip followed by right knee and left hip over a period of 10 years. At 11 years' follow-up, the patient has full mobility with no loosening of implants.
The long-term results of total joint arthroplasty in ochronotic arthropathy are good. Surgeon should be aware of the difficulty in soft tissue balancing and possible complications in the ochronotic arthropathy and require a conscientious approach to avoid complications.
黑尿症是一种罕见的常染色体隐性疾病，由尿黑酸代谢缺陷引起，病程罕见，甚至到成年期仍未被发现。褐黄病性关节病是黑尿症的表现之一，主要影响负重关节，如脊柱、髋关节和膝关节。全关节置换术是髋膝关节终末期关节炎的首选治疗方法。由于该病罕见，文献中关于手术挑战和长期功能结果的数据有限。
在此，我们报告一例43岁男性，患有双侧髋关节、右膝关节和双侧肘关节的褐黄病性关节病，并累及脊柱，术中偶然诊断为褐黄病性关节病，在10年期间先后接受了右髋关节、右膝关节和左髋关节置换术。在11年的随访中，患者活动自如，植入物无松动。
褐黄病性关节病全关节置换术的长期效果良好。外科医生应意识到褐黄病性关节病软组织平衡的困难和可能的并发症，需要认真对待以避免并发症。
