Searchable abstracts of presentations at key conferences in endocrinology

ea0041s14.3 | Hot topics on vitamin D | ECE2016

CYP24A1 mutations and human disease

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...

ea0063p119 | Calcium and Bone 1 | ECE2019

Biochemical and clinical features of a family with a novel mutation of CYP24A1

Brancatella Alessandro , Cappellani Daniele , Kaufmann Martin , Borsari Simona , Jones Glenville , Marcocci Claudio , Cetani Filomena

Context: Mutations of cytochrome P450 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH), a disease recently related to vitamin D catabolism impairment.Aim of the study: Report of clinical and biochemical features of a large family with a novel mutation of CYP24A1.Methods: We performed dosage of total calcium, ionized calcium, 24 h urinary calcium, PTH, 25-OH-Vitamin D (25-O...