Apr 24, 2019
The presentation, course and therapeutic considerations for X-Linked Hypophosphatemia (XLH), the most frequently occurring heritable cause of rickets, will be discussed. Once known as “Vitamin D-resistant rickets”, the disorder has become the prototype physiologic model of FGF23-mediated hypophosphatemia. XLH manifests classical features of rachitic bone disease, but is complicated by other features that may represent other aspects of amplified FGF receptor signaling as seen in skeletal dysplasias. The disorder usually presents in childhood, but can be progressive with debilitating consequences in adulthood. Recent advances including the inhibition of FGF23 activity as a novel mechanism for therapy will be discussed.