ASBMR Webinar on Clinical Management of Rare Bone Diseases: XLH
June 29, 2018 11:30:00 AM EDT
X-linked hypophosphatemia (XLH) is a syndrome of renal phosphate wasting and defective vitamin D synthesis that leads to rickets with short stature and limb deformities, osteomalacic fractures, dental abscesses, progressive arthritis and extensive enthesopathy. XLH is an X-linked dominant disorder caused by loss-of-function mutations in the PHEX gene that leads to excess production of FGF23 from the bone. Excess FGF23 leads to hypophosphatemia, phosphaturia, and inappropriate low or normal 1,25 dihydroxy vitamin D. In this webinar, we will review the diagnosis, pathophysiology, and clinical manifestations and complications of XLH. We will focus on conventional and new therapeutic approaches for treating XLH.
- Understand the physiological control of phosphate homeostasis and the central role of FGF23.
- Diagnose XLH and understand the differential diagnosis of hypophosphatemic disorders.
- Describe clinical manifestations and long term complications of XLH.
- Explain indications for therapy, therapeutic options for XLH, and therapeutic monitoring.