A large alkaptonuria (AKU) cohort was studied to better characterize the poorly understood spondyloarthropathy of rare disease AKU. Eighty‐seven patients attended the National Alkaptonuria Centre (NAC) between 2007 and 2020. Seven only attended once. Fifty‐seven attended more than once and received nitisinone 2 mg daily. Twenty‐three attended at least twice without receiving nitisinone. Assessments included questionnaire analysis, ^18FPositron emission tomography computerised tomography (PETCT), as well as photographs of ochronotic pigment in eyes and ears at baseline when 2 mg nitisinone was commenced and yearly thereafter. Blood and urine samples were collected for chemical measurement. The prevalence of ochronosis, as well as pain, PETCT and combined pain and PETCT scores, was greatly increased at 90.5%, 85.7%, 100%, and 100%, respectively. Joint pain scores were greatest in proximal joints in upper and lower limbs. PETCT joint scores were higher in proximal joints in upper limb but higher in distal joints in the lower limb. Spine pain scores were highest in lumbar, followed by cervical, thoracic, and cervical regions at 77.4%, 59.5%, 46.4%, and 25%, respectively. PETCT spine scores were highest in thoracic followed by lumbar, cervical, and sacroiliac regions at 74.4%, 70.7%, 64.6%, and 47.8% respectively; ochronosis associated closely with spondyloarthropathy scores (R = .65; P < .0001). Nitisinone reversed ochronosis significantly, with a similar pattern of decreased joint and spine disease. Spondyloarthropathy is a highly prevalent feature in this NAC cohort. Ochronosis appears to be associated with spondyloarthropathy. Nitisinone decreases ochronosis and had a similar nonsignificant effect pattern on spondyloarthropathy.

中文翻译：

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在 87 名患者的大队列中表征碱尿症关节和脊柱表型并评估降低尿黑酸治疗的效果

研究了一个大的碱酸尿症 (AKU) 队列，以更好地描述罕见疾病 AKU 中知之甚少的脊柱关节病。87 名患者在 2007 年至 2020 年期间就诊于国家碱酸尿症中心 (NAC)。其中 7 名仅就诊一次。57 人参加了一次以上，每天接受 2 mg 尼替西农。23 人至少参加了两次但未接受尼替西农治疗。评估包括问卷分析，^18F正电子发射断层扫描计算机断层扫描 (PETCT)，以及在开始使用 2 mg 尼替西农和此后每年一次时眼睛和耳朵中的慢性色素的照片。收集血液和尿液样本用于化学测量。ochronosis 的患病率以及疼痛、PETCT 以及疼痛和 PETCT 综合评分分别大幅增加了 90.5%、85.7%、100% 和 100%。上肢和下肢近端关节的关节疼痛评分最高。PETCT 关节评分在上肢近端关节较高，但在下肢远端关节较高。腰椎的脊柱疼痛评分最高，其次是颈椎、胸椎和颈椎，分别为 77.4%、59.5%、46.4% 和 25%。PETCT 脊柱评分在胸椎最高，其次是腰椎、颈椎和骶髂区域，分别为 74.4%、70.7%、分别为 64.6% 和 47.8%；慢性病与脊柱关节病评分密切相关（R = .65；P  < .0001)。尼替西农显着逆转了陈旧性，具有类似的关节和脊柱疾病减少模式。脊柱关节病是该 NAC 队列中非常普遍的特征。Ochronosis 似乎与脊椎关节病有关。尼替西农可减少陈旧性，并且对脊柱关节病具有类似的非显着影响模式。