Arthroplasty in the spondyloarthropathy (SPOND) of alkaptonuria (AKU) in incompletely characterised. The aim was to improve the understanding of arthroplasty in AKU through a study of patients attending the National Alkaptonuria Centre (NAC). Eighty‐seven patients attended the 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 including questionnaire analysis eliciting details of arthroplasty and other surgical treatments for SPOND, ¹⁸FPETCT and CT densitometry at the neck of hip and lumbar spine, as well as photographs of the eyes and ears were acquired from patients attending the National Alkaptonuria Centre (NAC) at baseline when 2 mg nitisinone was commenced, and yearly thereafter. Photographs were scored to derive ochronosis scores. Blood and urine samples were collected for chemical analyses. The prevalence of arthroplasty was 36.8%, similar in males and females, occurring especially in the knees, hips and shoulders. Multiple arthroplasties were found in 29 patients (33.3%) in this cohort. Incident arthroplasty was 6.5% in the nitisinone group and 7.1% in the no‐nitisinone group. Incident arthroplasty was 11.3% in the group with baseline arthroplasty and 3.51% in the group without. A strong association of arthroplasty with SPOND (R = 0.5; P << .0001) and ochronosis (R = 0.54; P < .0001) was seen. Nitisinone had no significant effect on incident arthroplasty. Arthroplasty due to ochronosis and SPOND is common in AKU. Nitisinone decreased ochronosis but had no effect on arthroplasty in this cohort.

中文翻译：

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在 87 名碱尿症患者的大型队列中表征脊柱关节病中的关节成形术

碱尿症 (AKU) 脊柱关节病 (SPOND) 中的关节成形术未完全表征。目的是通过对就诊于美国国家碱酸尿症中心 (NAC) 的患者进行的一项研究，提高对 AKU 关节置换术的理解。87 名患者在 2007 年至 2020 年期间参加了 NAC。7 名仅参加了一次。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。包括问卷分析在内的评估，其中包含关节置换术和其他 SPOND 手术治疗的详细信息，¹⁸髋部和腰椎颈部的 FPETCT 和 CT 密度测量，以及眼睛和耳朵的照片是在基线时从国家碱酸尿症中心 (NAC) 的患者那里获得的，当时开始使用 2 mg 尼替西农，此后每年一次。对照片进行评分以得出时间偏差评分。收集血液和尿液样本用于化学分析。关节置换术的患病率为 36.8%，男性和女性相似，尤其是膝盖、臀部和肩部。该队列中有 29 名患者 (33.3%) 进行了多次关节置换术。尼替西农组和非尼替西农组的关节置换术发生率为 6.5% 和 7.1%。在有基线关节置换术的组中，关节置换术的发生率为 11.3%，在没有进行关节置换术的组中为 3.51%。关节置换术与 SPOND 的强关联（R= 0.5; P  << .0001) 和时间偏差 ( R = 0.54; P  < .0001)。尼替西农对偶发性关节置换术没有显着影响。AKU 中常见的是由于陈旧性和 SPOND 导致的关节置换术。在该队列中，尼替西农减少了陈旧性，但对关节成形术没有影响。