Bone Abstracts

Background: Defects in 1-α-hydroxylase enzyme activity result in reduced activity of 1,25(OH)2D causing vitamin D dependent rickets. Physiologically FGF23 levels are stimulated by a rise in 1,25(OH)2D which in turn suppresses 1-α-hydroxylase expression to complete the feedback loop.Presenting problem: A 15-month-old Irish Caucasian girl was referred by her GP for failure to weight bear. She was born at term via elective se...

Background: This case illustrates the longitudinal improvements quantified by serial bone mineral density scans in an adolescent female with juvenile idiopathic osteoporosis treated with pamidronate.Presenting problem: The girl in question presented at 11 years and 10 months with a 5-month history of increasing back pain. A MRI scan prior to referral had indicated vertebral collapse and osteopenia. She had no medical, social or developmental history of n...