hrp0089rfc10.6 | Late Breaking | ESPE2018
Cauliez Axelle
, Faraji-Bellee Carole-Anne
, Salmon Benjamin
, Fogel Olivier
, Benoit Aurelie
, Schinke Thorsten
, Miceli Corinne
, Briot Karine
, Linglart Agnes
, Chaussain Catherine
, Bardet Claire
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...