Jirel Abhishek, Paul Nirvin, Kaganur Raghavendra, Gopurathingal Anto, George Joseph
Department of Orthopaedics, United Mission of Nepal Hospital, Tansen, Palpa - 32500. Nepal.
Department of Trauma surgery, AIIMS Rishikesh, Uttarakhand - 249203. India.
J Orthop Case Rep. 2022 Oct;12(10):14-17. doi: 10.13107/jocr.2022.v12.i10.3346.
Ochronotic arthropathy is a rapidly progressive sequelae of alkaptonuria. This is a rare autosomal recessive condition caused by a mutation in the homogentisate 1,2 dioxygenase (HGD) gene leading to HGD enzyme deficiency. Here, we report a case of neck femur fracture in a patient with ochronotic arthropathy managed by primary hip arthroplasty.
A 62-year-old gentleman presented with complaints of pain in his left groin area and difficulty in weight bearing on his left lower limb for 3 weeks. The pain was sudden in onset and started while he was on his morning walk. He did not have any problems with his left hip before this episode and he did not give a history of any significant trauma. History, radiological, and intraoperative findings revealed ochronotic hip arthropathy.
Ochronotic arthropathy is relatively rare and is seen in isolated communities. The treatment options are similar to primary osteoarthritis and the outcome is comparable to arthroplasty done for osteoarthritis.
褐黄病性关节病是尿黑酸尿症的一种快速进展的后遗症。这是一种罕见的常染色体隐性疾病,由尿黑酸1,2双加氧酶(HGD)基因突变引起,导致HGD酶缺乏。在此,我们报告一例褐黄病性关节病患者股骨颈骨折,通过初次髋关节置换术进行治疗。
一名62岁男性,主诉左腹股沟区疼痛,左下肢负重困难3周。疼痛突然发作,晨起散步时开始。此次发作前左髋无任何问题,也无任何重大创伤史。病史、影像学及术中检查结果显示为褐黄病性髋关节病。
褐黄病性关节病相对罕见,多见于孤立社区。治疗选择与原发性骨关节炎相似,其结果与骨关节炎关节置换术相当。