ea0041s14.3 | Hot topics on vitamin D | ECE2016
Jones Glenville
Idiopathic infantile hypercalcemia (IIH) constitutes a broad group of diseases with a common outcome namely, hypercalcemia. It is now recognized that mutations of the vitamin D catabolic cytochrome P450, CYP24A1 represent one of the major causes of IIH. Patients often present in neonatal life with transient hypercalcemia, but adults with hypercalciuria, renal stones & nephrocalcinosis also appear with CYP24A1 defects. Recently, there have been reports that pregnant females...