Al-Mahfoudh R, Clark S, Buxton N
Department of Neurosurgery, Walton Centre, Liverpool, UK.
Br J Neurosurg. 2008 Dec;22(6):805-7. doi: 10.1080/02688690802226368.
Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid. Ochronotic arthropathy is the articular manifestation of alkaptonuria with the most common clinical feature being severe spondyloarthropathy. We present the case of a 58-year-old woman with back pain. Radiographs and magnetic resonance imaging (MRI) revealed characteristic features of ochronotic spondyloarthropathy. The literature regarding management of alkaptonuria is reviewed.
黑尿症是一种罕见的常染色体隐性代谢疾病，可导致尿黑酸沉积。褐黄病性关节病是黑尿症的关节表现，最常见的临床特征是严重的脊柱关节病。我们报告一例58岁背痛女性病例。X线片和磁共振成像（MRI）显示了褐黄病性脊柱关节病的特征性表现。本文对黑尿症的治疗相关文献进行了综述。
