Alkaptonuric Ochronosis: A case-based review.

IF 0.5 4区 医学 Q4 ORTHOPEDICS Acta orthopaedica Belgica Pub Date : 2024-06-01 DOI:10.52628/90.2.12403
K H Salem, A D Elmoghazy
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引用次数: 0

Abstract

Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome. Ochronosis can cause severe arthropathy of peripheral joints. Multiple joint affection is common. Total joint replacement can yield persistent pain relief with complete functional recovery in patients with severe ochronotic arthropathy.

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碱通尿症:病例回顾
烷基胨尿症(AKU)是一种极其罕见的常染色体隐性遗传代谢性疾病,由均五味子酸氧化酶缺乏引起,导致均五味子酸在胶原结构中蓄积。该病的特征是高戊二酸尿症、结缔组织蓝黑色褪色(chronosis)和负重大关节的关节病三联征。我们报告了一名患有双侧髋关节和肩关节严重chronotic关节炎的中年女性患者,她需要分期进行全关节置换手术,手术后无并发症,疼痛完全缓解,临床和功能结果令人满意。Ochronosis 可导致外周关节的严重关节病。多关节病变很常见。全关节置换术可缓解严重chronotic关节病患者的持续疼痛,并使其功能完全恢复。
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来源期刊
Acta orthopaedica Belgica
Acta orthopaedica Belgica 医学-整形外科
CiteScore
0.70
自引率
0.00%
发文量
58
审稿时长
4-8 weeks
期刊介绍: Information not localized
期刊最新文献
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