ea0035p144 | Calcium and Vitamin D metabolism | ECE2014
Loyer Camille
, Leroy Clara
, Huglo Damien
, Boury Samuel
, Molin Arnaud
, Kottler Marie-Laure
, Pattou Francois
, Vantyghem Marie-Christine
CYP24A1 gene encodes 24-hydroxylase that inactivates 1-25-OHvitaminD. Mutations induce infantile hypercalcemia, with high 1-25-OHvitaminD, contrasting with low PTH levels. Adult phenotypes are not well known yet. We report two cases of post-surgical persistent hypercalcemia, related to CYP24A1 mutations. Two unrelated patients, a 40-year-old female (#1) and 54-year old male (#2), were referred for nephrolithiasis, enthesis and hypertension in both, associated...