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X-linked hypophosphatemic rickets and craniosynostosis
1Section of Plastic Surgery, Children's National Medical Center, George Washington University, Washington, DC 20010, USA. amurthy@cnmc.org
The Journal of Craniofacial Surgery
|February 27, 2009
Summary
X-linked hypophosphatemic rickets (XLH) involves disrupted bone mineralization. High fibroblast growth factor 23 (FGF23) levels may explain XLH
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Bone mineralization relies on complex protein interactions, including fibroblast growth factor 23 (FGF23) and PHEX.
- X-linked hypophosphatemic (XLH) rickets, a common metabolic bone disease, results from PHEX gene mutations.
- Craniosynostosis has been anecdotally linked to XLH rickets.
Observation:
- This report details a patient with both XLH rickets and craniosynostosis.
- Literature review suggests a physiological basis for the XLH rickets-craniosynostosis association.
- Elevated FGF23 levels may cross-bind FGF receptors 2 and 3 at cranial sutures.
Findings:
- A loss-of-function mutation in PHEX disrupts normal bone mineralization pathways.
- High FGF23 levels are implicated in the pathogenesis of XLH rickets.
- Cross-binding of FGF23 to cranial suture FGF receptors may explain craniosynostosis in XLH patients.
Implications:
- Understanding these complex interactions is crucial for treating bone disorders.
- Further research, potentially using mouse models, could lead to medical prevention strategies for craniosynostosis in rickets.
- This study highlights the intricate relationship between phosphate homeostasis, bone remodeling, and skeletal development.
