hrp0095fc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Derivation of local reference intervals for serum phosphate to improve diagnosis of Hypophosphataemic rickets

Thomas Maria , Anand Binu , Park Soo-Mi , Cheung Moira , Thankamony Ajay , Oddy Sue

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...