Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p198 | (1) | ICCBH2013

Severe hypercalcemia in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

Olivieri Francesca , Piona Claudia , Brugnara Milena , Morandi Grazia , Maines Evelina , Konrad Martin

Background: Idiopathic infantile hypercalcemia (IIH) is a rare cause of infantile hypercalcemia characterized by failure to thrive, vomiting, dehydration, and nephrocalcinosis. This condition has recently been associated with mutations in the CYP24A1 gene, which encodes 25-hydroxyvitamin D3 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D3 degradation. Until now, only 13 cases genetically tested for IIH have been reported in the literature.Case ...