Patient Management
Maya McFrazier, DMD (she/her/hers)
Resident
Indiana University, Bloomington, IN
Indiana University
Indianapolis, Indiana, United States
Juan F. Yepes, DDS, MD, MPH, MS, DrPH
Indiana University, Riley Hospital for Children
LaQuia A. Vinson, DDS, MPH
Pediatric Dentistry Residency Program Director
Indiana University/Riley Hospital for Children
Indianapolis, Indiana, United States
McFrazier MC, Yepes JF. Dental Considerations in a Patient with X Linked Hypophosphatemia. (Indiana University Riley Hospital for Children, Indianapolis, IN)
Introduction: X-Linked Hypophosphatemia (XLH) is known as the most common form of hereditary rickets. XLH is a rare, lifelong phosphate wasting disorder and is prevalent in 1 in every 20,000. XLH is due to a PHEX (Phosphate Regulating Endopeptidase X-Linked) gene mutation, which is thought to be involved in renal phosphate reabsorption and bone and dentin mineralization. Mutations in this gene ultimately lead to decreased serum calcium and potassium phosphate. Clinical presentation of XLH in children can consist of: Lower limb bone deformities, rickets, bone pain and failure to thrive. Dental manifestations of this condition include spontaneous abscesses that may occur without previous history of trauma or dental caries. The pediatric dentist plays a crucial role due to patients with XLH needing multidisciplinary care and helping to achieve optimal oral care.
Case Abstract: A 6 year, 8-month-old male presented to the Riley Hospital for Children outpatient dental clinic. His medical history was significant for X-Linked Hypophosphatemia for which he was taking Crysvita, a fibroblast growth factor 23 blocker. The patient had no reported drug allergies. This patient presented with mixed dentition and no clinical caries, but a clinical abscess associated with #I. This case will review management of this patient with a history of spontaneous abscesses associated with XLH.