Kanamalla Karthik, Fuchs Rebekah, Herzog Casey, Steigbigel Keith D, Macica Carolyn M
Quinnipiac University, Frank H. Netter MD School of Medicine, Department of Medical Sciences, North Haven, Connecticut 06518, USA.
Quinnipiac University, School of Health Sciences, Department of Physical Therapy, North Haven, Connecticut 06518, USA.
J Endocr Soc. 2022 Jun 18;6(8):bvac094. doi: 10.1210/jendso/bvac094. eCollection 2022 Aug 1.
X-linked hypophosphatemia (XLH) is a rare and progressive metabolic phosphate-wasting disorder characterized by lifelong musculoskeletal comorbidities. Despite considerable physical disability, there are currently no disease-specific physical therapy (PT) recommendations for XLH designed to improve engagement and confidence in performing activities of daily living (ADL).
The objective of this patient-centered study was to develop an evidence-based PT program to address gaps in the management of adult XLH without imposing unintended harm.
Creation of the program was informed by a prior controlled clinical study to evaluate the physical and functional effect of XLH on adulthood, and guided by the physical presentation of participants, subjective data and patient goals acquired at intake, and by performance on multiple active range of motion (ROM) movements from the standing position. A weekly standardized interview process was used to assess progression of physical and functional abilities, gains and concerns, and to obtain timely feedback to inform future exercise modifications. Outcomes were evaluated using validated functional tools and subjective data obtained throughout the study.
A remote 12-week PT program was created based on collected data. Open and closed kinetic-chain exercises were developed and implemented. Functional improvements were documented, and weekly surveys indicated improved abilities and confidence to engage in ADL. Minimal improvements were observed in active upper and lower extremity ROM, reflective of substantial bony restrictions characteristic of XLH.
This study represents the first disease-specific PT recommendations for XLH to mitigate the unique physical challenges of the adult disorder that can be modified to adapt to the current progression status of the adult disorder.
X连锁低磷血症（XLH）是一种罕见的进行性代谢性磷酸盐消耗性疾病，其特征是终身存在肌肉骨骼合并症。尽管身体残疾严重，但目前尚无针对XLH的特定疾病物理治疗（PT）建议，旨在提高参与度和进行日常生活活动（ADL）的信心。
这项以患者为中心的研究的目的是制定一项基于证据的PT计划，以解决成人XLH管理方面的差距，同时避免造成意外伤害。
该计划的制定参考了先前一项对照临床研究，以评估XLH对成年期的身体和功能影响，并以参与者的身体表现、摄入时获得的主观数据和患者目标，以及站立位多个主动活动范围（ROM）动作的表现为指导。采用每周标准化访谈流程评估身体和功能能力的进展、收获和担忧，并获得及时反馈以指导未来的运动调整。使用经过验证的功能工具和整个研究过程中获得的主观数据评估结果。
根据收集的数据创建了一个为期12周的远程PT计划。开发并实施了开链和闭链运动。记录了功能改善情况，每周调查表明参与ADL的能力和信心有所提高。在主动上肢和下肢ROM方面观察到最小程度的改善，这反映了XLH特有的严重骨质限制。
本研究代表了首个针对XLH的特定疾病PT建议，以减轻成人疾病独特的身体挑战，该建议可进行调整以适应成人疾病的当前进展状态。
