hrp0082p3-d1-666 | Bone | ESPE2014

Hypercalciuria in Patients with Coexisting Osteogenesis Imperfecta and Renal Tubular Acidosis

Aguiar Luisa , Braden Gregory , Allen Holley

Background: Hypercalciuria, short stature and low bone mineral density are features of distal renal tubular acidosis (dRTA) and osteogenesis imperfecta (OI). If untreated, the presence of dRTA in patients with OI may worsen the prognosis and lead to poorer height outcomes. We describe two unrelated children with an unusual association between OI and dRTA.Cases: Patient 1 is a 7-year-old female diagnosed prenatally with a COL1A2 mutation and postnatally w...