Assessment of bone involvement by DXA and HR-pQCT in patients with X-linked hypophosphatemia
- 1Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE), Rio de Janeiro, RJ Brazil
- 2Division Endocrinology, Universidade Federal do Rio de Janeiro (UFRJ), Rua Professor Rodolpho Paulo Rocco, 255, Ilha do Fundão, Rio de Janeiro, RJ 21941-617 Brazil
- 3Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, RJ Brazil
Abstract
Introduction: X-linked hypophosphatemic rickets (XLH) is a rare disease and its natural history affects the quality of life of patients, as it leads to bone deformities and architectural and qualitative changes in the bone.
Materials and methods: Sixteen XLH patients were selected from referral hospitals in Rio de Janeiro (12 women and four men) and compared to 16 healthy age- and sex-matched control individuals. All XLH were receiving calcitriol and oral phosphate supplements. Bone assessment was performed by high-resolution peripheral quantitative computed tomography (HR-pQCT) and dual-energy X-ray absorptiometry (DXA).
Results: XLH patients showed higher lumbar spine BMD Z-score, but lower 33% distal radius BMD and Z-score values as compared to control group. Low BMD for age (Z-score ≤ -2.0 SD) was only detected in the XLH group: specifically in 3 of the 5 postmenopausal women, 3 of the 7 premenopausal women, and 2 of the 4 men. HR-pQCT evaluation showed lower total vBMD at both peripheral sites and impaired trabecular parameters, particularly at the distal tibia, after correction for multiple comparisons.
Conclusion: Our study sheds light on the involvement of both trabecular and cortical compartments in the XLH group, despite conventional treatment. We also emphasize the limitation of DXA in assessing central sites in the XLH group. The 33% radius may represent a useful complementary skeletal site for DXA assessment, particularly when HR-pQCT is not available.
Related
- Disease trajectories and lived experiences of patients with X-linked hypophosphatemia in Taiwan: a qualitative study.
- Effectiveness of burosumab in children with X-linked hypophosphatemia with low rickets severity: SUNFLOWER analysis
- Exploratory Agreement of 3D Body Surface Analysis with Expert Manual Assessment of Pelvic Malalignment in Patients with Non-Acute Low Back Pain: A Prospective Pilot Study with Linked Post-Hoc Analyses
- P006 Treatment options if burosumab significantly improves symptoms related to X-linked hypophosphatemia but causes massive injection site reactions in adults
- Radiofrequency Echographic Multi-Spectrometry for bone health assessment in prostate cancer patients receiving Androgen deprivation therapy: A prospective comparative observational study
BibTeX
@article{santana2026assessment,
title = {{Assessment of bone involvement by DXA and HR-pQCT in patients with X-linked hypophosphatemia}},
author = {Iara Marcelino Sant′Ana and Maria Caroline Alves Coelho and Joyce Cantoni and Leandro Kasuki and Maria Lucia Fleiuss Farias and Miguel Madeira},
journal = {Journal of Bone and Mineral Metabolism},
year = {2026},
month = aug,
doi = {10.1007/s00774-026-01748-6},
url = {https://doi.org/10.1007/s00774-026-01748-6},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Assessment of bone involvement by DXA and HR-pQCT in patients with X-linked hypophosphatemia
AU - Iara Marcelino Sant′Ana
AU - Maria Caroline Alves Coelho
AU - Joyce Cantoni
AU - Leandro Kasuki
AU - Maria Lucia Fleiuss Farias
AU - Miguel Madeira
PY - 2026
DA - 2026/08/11
JO - Journal of Bone and Mineral Metabolism
DO - 10.1007/s00774-026-01748-6
UR - https://doi.org/10.1007/s00774-026-01748-6
AB - Introduction: X-linked hypophosphatemic rickets (XLH) is a rare disease and its natural history affects the quality of life of patients, as it leads to bone deformities and architectural and qualitative changes in the bone. Materials and methods: Sixteen XLH patients were selected from referral hospitals in Rio de Janeiro (12 women and four men) and compared to 16 healthy age- and sex-matched control individuals. All XLH were receiving calcitriol and oral phosphate supplements. Bone assessment was performed by high-resolution peripheral quantitative computed tomography (HR-pQCT) and dual-energy X-ray absorptiometry (DXA). Results: XLH patients showed higher lumbar spine BMD Z-score, but lower 33% distal radius BMD and Z-score values as compared to control group. Low BMD for age (Z-score ≤ -2.0 SD) was only detected in the XLH group: specifically in 3 of the 5 postmenopausal women, 3 of the 7 premenopausal women, and 2 of the 4 men. HR-pQCT evaluation showed lower total vBMD at both peripheral sites and impaired trabecular parameters, particularly at the distal tibia, after correction for multiple comparisons. Conclusion: Our study sheds light on the involvement of both trabecular and cortical compartments in the XLH group, despite conventional treatment. We also emphasize the limitation of DXA in assessing central sites in the XLH group. The 33% radius may represent a useful complementary skeletal site for DXA assessment, particularly when HR-pQCT is not available.
SN - 0914-8779
SN - 1435-5604
ER -