ReviewOrphanet journal of rare diseases2019
FGF23 and its role in X-linked hypophosphatemia-related morbidity.
Review in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 8 of them syntheses that pooled it.
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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.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
183 citing papers in PubMed, 8 syntheses or guidelines pooled it, 267 citations in OpenAlex.
- Secondary and Tertiary Hyperparathyroidism among Patients with X-Linked Hypophosphatemia: A Systematic Review and Meta-analysis.Calcified tissue international · 2025Pooled it
- X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2025Guideline
- Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Burosumab Efficacy and Safety in Patients with X-Linked Hypophosphatemia: Systematic Review and Meta-analysis of Real-World Data.Calcified tissue international · 2024Pooled it
- Efficacy and safety of burosumab compared with conventional therapy in patients with X-linked hypophosphatemia: A systematic review.Archives of endocrinology and metabolism · 2024Pooled it
- Meta-analysis and systematic review: burosumab as a promising treatment for children with X-linked hypophosphatemia.Frontiers in endocrinology · 2024Pooled it
- Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Pooled it
- Postprandial serum phosphorus and calcium concentrations in adults and children with X-linked hypophosphatemia during burosumab treatment.JBMR plus · 2026Trial
- Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment.RMD open · 2023Trial
- Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2022Trial
- Article
- Exploring the Association of Angiotensin-(1-7) with Left Ventricular Mass Index in Youth with Hereditary Hypophosphatemia: A Pilot Study.Research square · 2026Article
- Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study.Calcified tissue international · 2026Observational
- Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D.Pediatric nephrology (Berlin, Germany) · 2026Observational
- Real-world impact of treatment on growth in children with X-linked hypophosphatemia.The Journal of clinical endocrinology and metabolism · 2026Observational
- Multisuture craniosynostosis and acquired Chiari malformation secondary to vitamin D deficiency rickets: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Longitudinal Single-Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X-Linked Hypophosphatemia.Pediatric discovery · 2026Article
- Health-related quality of life in French adults with X-linked hypophosphatemia: real-world data from the International XLH Registry.JBMR plus · 2026Article
- Pain medication use in patients with X-linked hypophosphatemia treated with burosumab: a retrospective real-world study.JBMR plus · 2026Article
123 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 9 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood.
methodsThe role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH.
resultsThe pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to different manifestations of the disease. Hypophosphatemia due to elevated FGF23 is the most obvious contributor, however localised fluctuations in tissue non-specific alkaline phosphatase (TNAP), pyrophosphate, calcitriol and direct effects of FGF23 have been observed to be associated with certain manifestations.
conclusionsBy describing what is known about these pathways, this review highlights key areas for future research that would contribute to the understanding and clinical treatment of non-nutritional diseases of hypophosphatemia, particularly XLH.
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