hrp0092fc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

New Imaging Approaches to the Quantification of Musculoskeletal Alterations in X-Linked Hypophosphatemic Rickets (XLH)

Raimann Adalbert , Mehany Sarah N. , Feil Patricia , Weber Michael , Pietschmann Peter , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...