Orthopedic and neurosurgical care of X-linked hypophosphatemia
| Autor: | Federico Di Rocco, Agnès Linglart, Georges Finidori, Zagorka Pejin, Catherine Adamsbaum, Philippe Wicart, Stéphanie Pannier, Justine Bacchetta, Anya Rothenbuhler |
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| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Ossification PHEX Skull Rickets medicine.disease X-linked hypophosphatemia Short stature Neurosurgical Procedures Craniosynostosis Fibroblast Growth Factor-23 Pediatrics Perinatology and Child Health Orthopedic surgery medicine Humans Orthopedic Procedures Familial Hypophosphatemic Rickets medicine.symptom business Hypophosphatemia |
| Zdroj: | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 28(7) |
| ISSN: | 1769-664X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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