Spencer Jonathan M F, Gibbons C L Maxime H, Sharp Robert J, Carr Andrew J, Athanasou Nicholas A
Nuffield Department of Orthopaedic Surgery, University of Oxford, Nuffield Orthopaedic Centre, Headington, Oxford OX3 8JU, UK.
Acta Orthop Scand. 2004 Jun;75(3):355-8. doi: 10.1080/00016470410001321.
Alkaptonuria is a rare single-gene disorder characterized by black pigmentation of cartilage and other connective tissues. Premature degenerative arthritis affects the large joints in many of these of patients. Medical treatment is limited to a protein-restricted diet (phenylalanine and tyrosine) with surgery reserved for end-stage joint disease. As in other metabolic bone diseases, there are concerns about the quality and strength of affected bones and therefore the suitability and longevity of replacement arthroplasty. The histopathology and outcome of joint replacement for alkaptonuric arthritis is unknown and limited to sporadic case reports.
We describe 11 joint replacements in 3 patients with alkaptonuric polyarthropathy, including shoulder and elbow replacements not previously reported. No prosthetic failures occurred in up to 12 years of follow-up.
Total joint replacement is an acceptable treatment for degenerative joint disease in alkaptonuric patients, with implant survival comparable to that found in patients with osteoarthritis.
黑尿症是一种罕见的单基因疾病,其特征为软骨和其他结缔组织出现黑色色素沉着。许多此类患者会出现过早的退行性关节炎,累及大关节。医学治疗仅限于蛋白质限制饮食(苯丙氨酸和酪氨酸),手术则用于终末期关节疾病。与其他代谢性骨病一样,人们担心患病骨骼的质量和强度,进而担心关节置换术的适用性和使用寿命。黑尿症性关节炎关节置换的组织病理学和结果尚不清楚,且仅限于零星的病例报告。
我们描述了3例患有黑尿症多关节病患者的11次关节置换手术,包括此前未报告过的肩关节和肘关节置换。在长达12年的随访中未发生假体失败。
全关节置换术是黑尿症患者退行性关节疾病的一种可接受的治疗方法,植入物的存活率与骨关节炎患者相当。