ESPE Abstracts

XLH is a dominant disorder with a prevalence of approximately 1.7/100,000 children to 4.8/100,000 persons. PHEX, the gene responsible for XLH was identified on chromosome Xp22. It codes for a cell surface-bound protein-cleaving enzyme expressed predominantly in bone and teeth. The altered function of PHEX causes both the mineralization defect and the renal phenotypic abnormalities of XLH. Clinical manifestations of XLH occur most often around the age of walki...

Hypophosphatasia affects both hard and soft tissues. Its manifestations may become apparent at any time from fetal life to old age and the range of its severity and presentation varies perhaps more than any other metabolic bone disease. With the advent of enzyme replacement therapy, children who would have died not only survive, but can also thrive. As follow-up of treated children continues, we are beginning to understand the potential for complications of treatment and co-mo...

Achondroplasia is the most common form of genetic disproportionate short stature or dwarfism with an incidence of 1 in 20 000. It is caused by a recurrent mutation (G380R) in FGFR3, which encodes the transmembrane protein fibroblast growth factor receptor type 3, activating the FGFR3 signalling pathway in the absence of its FGF ligand. This disrupts both endochondral and intramembranous ossification, causing a number of bone modelling abnormalities with secondary comp...