ESPE Abstracts

Background: Hypophosphatemia due to excess urinary phosphate losses and rachitic bone disease occur in several related disorders. The most common form of the heritable hypophosphatemic disorders, X-linked hypophosphatemia (XLH), is due to loss-of-function mutations of the osteocyte/osteoblast protein, PHEX. Reduced abundance of phosphate transporters on the luminal surface of renal tubular cells in the syngeneic animal model of XLH, and inappropriately normal (or frankly low) ...

Osteogenesis imperfecta (OI) is a hereditary disease characterized by skeletal findings like increased fracture rate, deformed long bones and vertebral compression fractures. Non-skeletal findings include hypermobility of joint, hearing and dental impairments and weakness of collagen involving structures like vessels and valves. Therapy is based on an interdisciplinary approach including orthopaedic surgery to correct deformities, physiotherapy to increase musclefunction and p...

Skeletal development is a temporally-regulated non-linear process orchestrated by a complex genetic network that proceeds via two distinct ossification mechanisms, namely membranous and endochondral ossification. Genetic disorders of the skeletal system affect both bone and cartilage formation from early fetal development up to post-natal growth. Fibroblast growth factor receptor 3 (FGFR3) is an important regulator of bone formation. Achondroplasia is the most common form of d...