hrp0097p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

Lucia Feller Ana , Aziz Mariana , Gil Silvia , Quarracino Malena , Mendoza Lincolns , Paz Marcos , Vaiani Elisa , Ciaccio Marta , Viterbo Gisela

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...