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18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia
Indexado
WoS WOS:001406169800001
Scopus SCOPUS_ID:85217002101
DOI 10.1007/S00223-025-01343-3
Año 2025
Tipo artículo de investigación

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras


Abstract



X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects. In 19 adult XLH subjects, enthesopathy burden was assessed by quantifying calcified sites on CT and 18F-NaF PET uptake at 16 common tendon/ligament insertion locations. Parameters obtained were (1) number of enthesopathy sites, (2) characterization of each site as CT-positive (CT +) and/or PET-positive (PET +), (3) a semiquantitative score based on severity of affected enthesopathies (CT-scoreglobal and PET-scoreglobal). Biochemical and self-reported questionnaires results were correlated with 18F-NaF PET/CT parameters. 18F-NaF PET/CT detected at least one enthesopathy in all subjects, with 18F-NaF PET positivity often detected before CT (19.4% of all enthesopathies). Age negatively correlated with the number of PET + /CT- enthesopathies and positively with PET-/CT + enthesopathies. PET-scoreglobal was positively associated with ALP. While PET-scoreglobal showed no correlation with any applied survey, CT-scoreglobal was associated with worse functionality and pain. These associations suggest a progression from an actively mineralizing lesion to a more established, inactive lesion. Overall, although 18F-NaF PET/CT is not yet indicated for routine clinical use, it is a promising research tool for evaluating enthesopathy burden in XLH, offering valuable insights into the disease's progression and potentially enabling early therapeutic assessment.

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Disciplinas de Investigación



WOS
Endocrinology & Metabolism
Scopus
Sin Disciplinas
SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



Ord. Autor Género Institución - País
1 Jimenez, Macarena - Pontificia Universidad Católica de Chile - Chile
2 Sheppard, Aaron J. - Natl Inst Dent & Craniofacial Res - Estados Unidos
Louisiana State Univ Hlth Shreveport - Estados Unidos
National Institute of Dental and Craniofacial Research (NIDCR) - Estados Unidos
Louisiana State University in Shreveport - Estados Unidos
3 Jaimovich, Rodrigo - Pontificia Universidad Católica de Chile - Chile
4 Covarrubias, Natalia - Pontificia Universidad Católica de Chile - Chile
5 Jordan, Diego - Pontificia Universidad Católica de Chile - Chile
6 Quintana, Juan Carlos - Pontificia Universidad Católica de Chile - Chile
7 Contreras, Oscar - Pontificia Universidad Católica de Chile - Chile
8 Zuvic, Danisa Ivanovic - Hosp Salvador - Chile
Hospital del Salvador - Chile
9 Madison, Anette - Pontificia Universidad Católica de Chile - Chile
10 Saboury, Babak - Natl Inst Dent & Craniofacial Res - Estados Unidos
Inst Nucl Med - Estados Unidos
National Institute of Dental and Craniofacial Research (NIDCR) - Estados Unidos
Institute of Medicine - Estados Unidos
11 Collins, Michael T. - Natl Inst Dent & Craniofacial Res - Estados Unidos
National Institute of Dental and Craniofacial Research (NIDCR) - Estados Unidos
12 Florenzano, Pablo - Pontificia Universidad Católica de Chile - Chile

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Financiamiento



Fuente
National Institutes of Health
National Institute of Dental and Craniofacial Research
Division of Intramural Research
Ultragenyx
Ultragenyx Pharmaceutical
Kyowa Kirin

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos



Agradecimiento
This study was funded by an unrestricted research grant from Ultragenyx.
MC, BS, and AS are supported by the Division of Intramural Research, National Institute of Dental and Craniofacial Research, National Institutes of Health. PF has received grants from Ultragenyx and consulting fees from Kyowa Kirin and Ultragenyx. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Muestra la fuente de financiamiento declarada en la publicación.