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Orthopedic and neurosurgical care of X-linked hypophosphatemia
Federico Di Rocco1, Anya Rothenbuhler2, Catherine Adamsbaum3
1Department of Pediatric Neurosurgery, French Referral Center for Craniosynostosis, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Université de Lyon, 69677, Lyon, France; INSERM 1033, LYOS, Bone Disorders Prevention, 69008 Lyon, France.
Insights
X-linked hypophosphatemia (XLH) is a genetic disorder caused by PHEX gene mutations, leading to rickets and potential cranial issues. Management focuses on orthopedic and neurosurgical care for skeletal complications.
Area of Science:
- Genetics and Endocrinology
- Pediatric Orthopedics
- Neurosurgery
Background:
- X-linked hypophosphatemia (XLH) results from PHEX gene mutations, causing elevated FGF23 and hypophosphatemia.
- XLH manifests in children with rickets, short stature, gait disturbances, and limb deformities.
- Cranial suture ossification is a significant complication, potentially leading to increased intracranial pressure.
Purpose of the Study:
- To outline management criteria for skeletal complications in XLH.
- To detail orthopedic and neurosurgical care strategies for XLH patients.
- To discuss complexities in decision-making and follow-up for XLH skeletal issues.
Main Methods:
- Review of clinical manifestations and genetic basis of XLH.
- Analysis of treatment outcomes for phosphate and vitamin D supplementation.
- Evaluation of orthopedic and neurosurgical interventions for skeletal deformities and cranial issues.
Main Results:
- Phosphate and vitamin D analogs can improve limb straightness in XLH.
- Skeletal complications, including rickets and cranial ossification, require tailored management.
- Multidisciplinary care is essential for addressing the diverse skeletal manifestations of XLH.
Conclusions:
- Effective management of XLH skeletal complications requires a comprehensive approach.
- Orthopedic and neurosurgical interventions are crucial for improving patient outcomes.
- Further research into long-term management strategies for XLH is warranted.
Abstract:
X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression. Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities.
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