ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2021
Clinical and molecular characterization of Chilean patients with X-linked hypophosphatemia.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization.Orphanet journal of rare diseases · 2026Article
- X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.Journal of paediatrics and child health · 2025Review
- Factors associated with impaired physical functionality in X-linked hypophosphatemia.JBMR plus · 2025Article
- 18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.Calcified tissue international · 2025Article
- Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.Diagnostics (Basel, Switzerland) · 2025Article
- A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia.Frontiers in health services · 2025Review
- Diagnostic approach to rickets: an Endocrine Society of Bengal (ESB) consensus statement.Annals of pediatric endocrinology & metabolism · 2024Article
- Review
- Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives.Frontiers in endocrinology · 2023Article
- Approach to Hypophosphatemic Rickets.The Journal of clinical endocrinology and metabolism · 2022Article
- Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
We 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.
introductionOur 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.
objectiveTo describe the clinical, biochemical, and molecular presentation of patients with XLH in Chile.
methodsPatients 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.
resultsWe 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).
conclusionChilean 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.
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