Research Centre for Musculoskeletal Science & Sports Medicine, Department of Life Sciences, Manchester Metropolitan University, John Dalton Building, Chester Street, Manchester, M1 5GD, UK.
Rheumatology & Metabolic Bone Unit, Royal National Orthopaedic Hospital, Stanmore, UK.
Osteoporos Int. 2022 Jul;33(7):1485-1491. doi: 10.1007/s00198-022-06318-w. Epub 2022 Feb 5.
We described physical function and activity in UK adults with X-linked hypophosphatemia (XLH). Our data indicate that low physical activity and impaired mobility are common in adults with XLH. Deficits in lower limbs muscle power and functional capacity contribute to the loss of physical function in adults with XLH.
There is a dearth of literature on physical function and physical activity in adults with X-linked hypophosphatemia (XLH). We described muscle strength and power, functional capacity, mobility and physical activity level and explored the relationships among these variables in adults with XLH.
Participants were recruited as part of a UK-based prospective cohort study, the RUDY Study. They underwent a clinical visit and physical examination, including assessment of handgrip strength, jump power (mechanography), six-minute walk test (6MWT) and short physical performance battery (SPPB), and completed the International Physical Activity Questionnaire (IPAQ). Performance data were analysed using parametric and non-parametric tests, whereas correlations were assessed by univariate analysis.
Twenty-six adults with XLH (50% males) with a mean age of 44 ± 16.1 years were recruited. Jump power and 6MWT distances (p < 0.0001) were 54.4% and 38.6% lower respectively in individuals with XLH compared with normative values. These deficits were not associated with age or sex. Handgrip strength values were similar to expected values. Deficits in muscle power were more pronounced than those reported at 6MWT (p < 0.0001). Univariate analysis revealed only a correlation between total physical activity and muscle power (r = 0.545, p = 0.019).
Adults with XLH have a marked deficit in lower limb muscle power and a reduced functional capacity, with a high incidence of impaired mobility and inactivity. In addition to metabolic effects of XLH, low physical activity may contribute to deficits in lower limb power. Further studies are required to develop novel treatment approaches to improve physical function and mobility.
我们描述了英国 X 连锁低磷血症（XLH）成人的身体机能和活动情况。我们的数据表明，低身体活动和活动受限在 XLH 成人中很常见。下肢肌肉力量和功能能力的缺陷导致 XLH 成人身体功能丧失。
关于 XLH 成人的身体机能和身体活动，文献很少。我们描述了肌肉力量和力量、功能能力、活动能力和身体活动水平，并探讨了这些变量之间的关系。
参与者是英国一项前瞻性队列研究，即 RUDY 研究的一部分。他们接受了临床访问和体检，包括评估握力、跳跃力量（肌电图）、6 分钟步行测试（6MWT）和简短身体表现电池（SPPB），并完成了国际体力活动问卷（IPAQ）。使用参数和非参数检验分析性能数据，而相关性则通过单变量分析进行评估。
招募了 26 名平均年龄 44 ± 16.1 岁的 XLH 成人（50%为男性）。与正常值相比，XLH 个体的跳跃力量和 6MWT 距离分别低 54.4%和 38.6%（p < 0.0001）。这些缺陷与年龄或性别无关。握力值与预期值相似。肌肉力量的缺陷比 6MWT 报告的更为明显（p < 0.0001）。单变量分析仅显示总身体活动与肌肉力量之间存在相关性（r = 0.545，p = 0.019）。
XLH 成人下肢肌肉力量明显不足，功能能力降低，活动能力和活动能力下降发生率较高。除了 XLH 的代谢影响外，低身体活动可能导致下肢力量缺陷。需要进一步研究以开发改善身体功能和活动能力的新治疗方法。
