Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.
IACD, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool, L7 8TX, UK.
Osteoporos Int. 2021 May;32(5):927-938. doi: 10.1007/s00198-020-05671-y. Epub 2020 Oct 29.
Osteoporosis and fractures are common features of alkaptonuria.
A large cohort of alkaptonuria (AKU) patients was studied to better recognise and characterise osteoporosis and fractures in AKU.
Assessments including questionnaire analysis, DEXA and CT densitometry at the neck of femur (FN), total hip (TH) and lumbar spine (LS) were performed on patients at baseline when 2 mg nitisinone was commenced, and yearly thereafter. Blood and urine samples were collected for chemical measurement. CT BMD Z-scores were generated.
Between June 2007 and March 2020, 87 AKU patients attended the NAC. At baseline, there were 48 fractures in 39 patients. Prevalence of osteoporosis was 3.1 at FN, 10.8 at TH and 24.7% at LS respectively. Prevalence of fragility fractures was greatly increased at 44.8%. The group with fractures showed increased ochronosis scores (p < 0.05). CT LS showed an inverse relationship with fractures (R = - 0.28; p < 0.05). CT LS was significantly lower in the fracture group (p < 0.002). Following nitisinone only, CT FN and CT TH decreased significantly (p < 0.05 and 0.01 respectively). Following nitisinone plus antiresorptive therapy, CT FN, CT TH and CT LS all increased significantly (p < 0.05, 0.05 and 0.001 respectively). However, patients on nitisinone plus antiresorptive had more fractures than nitisinone and no-treatment groups (p < 0.05).
Osteopenia and fragility fractures are common in AKU.. Anti-resorptive therapy increased BMD in AKU without decreasing fragility fractures. Bone densitometry measurements by DXA are less reliable than quantitative CT at the LS in AKU.
骨质疏松症和骨折是尿黑酸尿症的常见特征。
研究了大量的尿黑酸尿症（AKU）患者，以更好地识别和描述 AKU 中的骨质疏松症和骨折。
在开始使用 2mg 尼替西农时以及此后每年，对患者进行问卷调查分析、DEXA 和股骨颈（FN）、全髋关节（TH）和腰椎（LS）的 CT 密度测定。采集血液和尿液样本进行化学测量。生成 CT BMD Z 分数。
2007 年 6 月至 2020 年 3 月期间，87 名 AKU 患者参加了 NAC。基线时，39 名患者中有 48 处骨折。FN 骨质疏松症的患病率为 3.1%，TH 为 10.8%，LS 为 24.7%。脆性骨折的患病率大大增加至 44.8%。有骨折的组 ochronosis 评分增加（p < 0.05）。LS CT 与骨折呈负相关（R = -0.28；p < 0.05）。骨折组的 LS CT 明显较低（p <0.002）。仅用尼替西农后，FN CT 和 TH CT 显著降低（p <0.05 和 0.01）。用尼替西农加抗吸收治疗后，FN CT、TH CT 和 LS CT 均显著增加（p <0.05、0.05 和 0.001）。然而，尼替西农加抗吸收治疗组的患者比尼替西农和无治疗组的患者发生更多的骨折（p <0.05）。
骨质疏松症和脆性骨折在 AKU 中很常见。抗吸收治疗增加了 AKU 的骨密度，而不会减少脆性骨折。与 LS 的定量 CT 相比，DXA 的骨密度测量在 AKU 中不太可靠。
