Take Another CYP: Confirming a Novel Mechanism for “Idiopathic” Hypercalcemia

摘要

First, the severity of the hypercalcemia in the infants de- creased or corrected with age. Secondly, the Tebben et al. (3) study reports an overt clinical phenotype in the heterozygous state. Of interest, the possibility of a partial or mild pheno- type in heterozygotes is raised by the maternal history of nephrolithiasis in the Dauber et al. (2) report, and the iden- tification of a (deletion) abnormality of only one allele in a proband is reported by Schlingmann eft al. (1). Finally, the current report describes a clinical response to therapy with the cytochrome inhibitor, ketoconazole, an agent also used in a report of 20 infants with idiopathic hypercalcemia by Nguyen et al. (4). Decreased enzymatic function of the 24- hydroxylase was identified in skin fibroblasts from one of the patients in the Nguyen et al. (4) study.