hrp0086p2-p155 | Bone & Mineral Metabolism P2 | ESPE2016

Bisphosphonate Treatment of Hypercalcemia in a Child with Jansen’S Metaphyseal Chondrodysplasia

Sharwood Erin , Harris Mark

Background: Jansen’s Metaphyseal Chondrodysplasia is a rare autosomal dominant condition caused by activating mutations in the parathyroid hormone/parathyroid hormone related peptide receptor (PTH1R). It is associated with persistent PTH-independent hypercalcemia and hypercalciuria from an early age. Our patient, a 2 year old boy with genetically proven Jansen’s Metaphyseal Chondrodysplasia, developed bilateral medullary nephrocalcinosis secondary to persistent hyper...