ArticleJBMR plus2025
Factors associated with impaired physical functionality in X-linked hypophosphatemia.
Article in JBMR plus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
2 citing papers in PubMed.
- Effects of burosumab on macrophage polarization and TRPV1 expression in children with XLH.Endocrine connections · 2026Article
- Insight into Natural History and Phenotype in Untreated Adults with X-Linked Hypophosphatemia.Calcified tissue international · 2026Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hypophosphatemia (XLH) is a rare inherited disorder characterized by elevated levels of FGF23, chronic hypophosphatemia, impaired bone mineralization, and chronic long-term manifestations. Treatment for XLH has been mainly focused on normalizing its biochemical abnormalities. Despite treatment, patients with XLH often present impaired physical function and decreased quality of life (QoL). We hypothesize that physical functionality and QoL are more strongly associated with chronic pain and decreased muscle mass than persistent biochemical abnormalities or exposure to conventional treatment. We conducted an observational, cross-sectional study with patients with XLH. Clinical records and biochemical parameters were assessed. QoL surveys SF36v.2 and WOMAC were applied. Functional status was measured by a physiatrist and an occupational therapist. Appendicular lean mass (ALM) was measured and compared with age and sex-matched healthy controls. Enthesopathies and osteoarthritis were evaluated. Pain was assessed using the Brief Pain Inventory, the Visual Analog Scale, and the Doleur Neuropathique-4 scales. Muscle strength was evaluated by the quadriceps muscle isometric strength (QMS) and physical performance with the 6-Minute Walk Test (6MWT) and the Functional Independence Measure (FIM) scale. A total of 30 patients were included: 21 females; median age of 32 yr. All participants had significant functional deficits, chronic pain, and reduced QoL. Limitations in daily activities were significantly associated with higher severity of pain, decreased ALM, lower QMS, and less distance in 6MWT (
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