ESPE Abstracts

Mineralization defects and paradoxical mineralizing enthesopathies are hallmarks of X-linked Hypophosphatemia (XLH), a rare skeletal disease caused by inactivating mutations in the PHEX gene (Phosphate-regulating endopeptidase homolog, X-linked). The current medical treatment, which consist in oral phosphorus supplementation and active vitamin D analogues, aimed at counteracting consequences of FGF23 excess and is commonly prescribed from early childhood to the end of...

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...