Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations Vrije Universiteit Brussel KU Leuven Ghent University
BACKGROUND: Bi-allelic CYP24A1 mutations can cause idiopathic infantile hypercalcemia (IIH), adult-onset nephrocalcinosis, and possibly bone metabolism disturbances. It is currently unclear if heterozygous carriers experience clinical problems or biochemical abnormalities. Our objective is to gain insight in the biochemical profile and health problems in CYP24A1 heterozygotes.
STUDY DESIGN: Cross-sectional evaluation of participants. ...