hrp0092p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers

Güven Ayla , Konrad Martin , Schlingmann Karl Peter

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...