Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p184 | (1) | ICCBH2013

High FGF23 measurements in a child with vitamin D dependent rickets type I: cause or consequence?

McDonnell Ciara , Treston Bryony , Murphy Nuala , Kilbane Mark , McKenna Malachi

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...

ba0002p183 | (1) | ICCBH2013

Juvenile idiopathic osteoporosis: a case study

McDonnell Ciara , Gibbons Catherine , Murphy Nuala , Kilbane Mark , van der Kamp Susan , McKenna Malachi

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...