ReviewPediatric nephrology (Berlin, Germany)2020
Mineralized tissues in hypophosphatemic rickets.
Review in Pediatric nephrology (Berlin, Germany), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- Phosphate: An Anion Controlling Metabolic Functions.Nutrients · 2026Review
- Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan.Journal of endocrinological investigation · 2025Article
- Approach to a Child with Hypophosphatemia.Biomolecules · 2025Review
- Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded.MedComm · 2025Review
- Dental Manifestations in Children Affected by Hypophosphatemic Rickets: A Systematic Review and Meta-Analysis.Children (Basel, Switzerland) · 2025Review
- Mathematical model capturing physicochemical and biological regulation of bone mineralization.Scientific reports · 2024Article
- Matrix first, minerals later: fine-tuned dietary phosphate increases bone formation in zebrafish.JBMR plus · 2024Article
- Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.Bone reports · 2024Article
- Extracellular FeScientific reports · 2023Article
- Bone Material Properties in Bone Diseases Affecting Children.Current osteoporosis reports · 2023Review
- Evaluation of the trabecular bone score in 35 children and adults with X-linked hypophosphatemic rickets.Journal of bone and mineral metabolism · 2023Article
- Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH).Orphanet journal of rare diseases · 2022Review
- An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Conductive Hearing Loss in the Hyp Mouse Model of X-Linked Hypophosphatemia Is Accompanied by Hypomineralization of the Auditory Ossicles.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due toJBMR plus · 2021Article
- Effect of high phosphate diet on the formation of dentin in Fam20c-deficient mice.European journal of oral sciences · 2021Article
- RareBMJ case reports · 2021Article
- Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.Journal of bone and mineral metabolism · 2021Article
- Upstream Regulators of Fibroblast Growth Factor 23.Frontiers in endocrinology · 2021Review
- Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.Case reports in endocrinology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly due to X-linked dominant mutations in PHEX. PHEX mutations cause hypophosphatemia indirectly, through the increased expression of fibroblast growth factor 23 (FGF23) by osteocytes. FGF23 decreases renal phosphate reabsorption and thereby increases phosphate excretion. The lack of phosphate leads to a mineralization defect at the level of growth plates (rickets), bone tissue (osteomalacia), and teeth, where the defect facilitates the formation of abscesses. The bone tissue immediately adjacent to osteocytes often remains unmineralized ("periosteocytic lesions"), highlighting the osteocyte defect in this disorder. Common clinical features of XLH include deformities of the lower extremities, short stature, enthesopathies, dental abscesses, as well as skull abnormalities such as craniosynostosis and Chiari I malformation. For the past four decades, XLH has been treated by oral phosphate supplementation and calcitriol, which improves rickets and osteomalacia and the dental manifestations, but often does not resolve all aspects of the mineralization defects. A newer treatment approach using inactivating FGF23 antibodies leads to more stable control of serum inorganic phosphorus levels and seems to heal rickets more reliably. However, the long-term benefits of FGF23 antibody treatment remain to be elucidated.
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