Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia

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dc.contributor.authorJimenez, M.
dc.contributor.authorIvanovic-Zuvic, D.
dc.contributor.authorLoureiro, C.
dc.contributor.authorCarvajal, C. A.
dc.contributor.authorCavada, G.
dc.contributor.authorSchneider, P.
dc.contributor.authorGallardo, E.
dc.contributor.authorGarcia, C.
dc.contributor.authorGonzalez, G.
dc.contributor.authorContreras, O.
dc.contributor.authorCollins, M. T.
dc.contributor.authorFlorenzano, P.
dc.date.accessioned2025-01-20T23:53:37Z
dc.date.available2025-01-20T23:53:37Z
dc.date.issued2021
dc.description.abstractWe report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries. Introduction Our current understanding of the clinical presentation and natural history of X-linked hypophosphatemia (XLH) comes mainly from cohorts from developed countries, with limited data on the clinical and genetic abnormalities of XLH patients in South America. Objective To describe the clinical, biochemical, and molecular presentation of patients with XLH in Chile. Methods Patients with XLH referred by endocrinologist throughout Chile were included. Demographic data and clinical presentation were obtained from a clinical interview. Surveys were applied for quality of life (QoL), pain, and functionality. FGF23 was measured by ELISA, and genetic testing was performed. Imaging studies were conducted to assess skeletal and renal involvement. Results We included 26 patients, aged 2-64 years, from 17 unrelated Chilean families. All pediatric patients but only 40% of adults were receiving conventional therapy, while 65% of all patients had elevated alkaline phosphatase. All patients had mutations in PHEX, including 5 novel variants. Radiographic skeletal events (RSE) and enthesopathies in adults were frequent (34% and 85%, respectively). The duration of treatment was associated with fewer RSE (p < 0.05). Most adults reported pain and impaired QoL, and 50% had impaired physical capacity. The number of enthesopathies was associated with worse pain and stiffness scores (p < 0.05). Conclusion Chilean patients with XLH have a high prevalence of musculoskeletal burden associated with pain and impaired physical capacity and QoL, especially in adults who were generally undertreated. These data identify a significant unmet need, inform our understanding of the current status of patients, and can guide care for XLH patients in similarly socioeconomically defined countries.
dc.description.funderUltragenyx
dc.fuente.origenWOS
dc.identifier.doi10.1007/s00198-021-05875-w
dc.identifier.eissn1433-2965
dc.identifier.issn0937-941X
dc.identifier.urihttps://doi.org/10.1007/s00198-021-05875-w
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/94980
dc.identifier.wosidWOS:000625602000001
dc.issue.numero9
dc.language.isoen
dc.pagina.final1836
dc.pagina.inicio1825
dc.revistaOsteoporosis international
dc.rightsacceso restringido
dc.subjectDisorders of calcium
dc.subjectphosphate
dc.subjectOsteomalacia and rickets
dc.subjectPth
dc.subjectVit D
dc.subjectFgf23
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleClinical and molecular characterization of Chilean patients with X-linked hypophosphatemia
dc.typeartículo
dc.volumen32
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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