Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review

Conn Med. 2015 Nov-Dec;79(10):593-7.

Abstract

We present two unrelated cases of young adults with hypercalcemia, hypercalciuria, and nephrocalcinosis. Both had suppressed intact parathyroid hormone levels and high 1,25 vitamin D levels after only brief, low-dose, over-the-counter vitamin supplementation. Neither had evidence of a granulomatous disorder. Their presentation mimicked that of 1,25 hydroxy vitamin D intoxication. In both patients, the diagnosis of idiopathic infantile hypercalcemia was confirmed with immeasurably low 24,25 vitamin D levels. Both were found to have a loss-of-function mutation in the CYP24A1 gene, which encodes the vitamin D-metabolizing enzyme 25-hydroxyvitamin D 24-hydroxylase.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Humans
  • Hypercalcemia / diagnosis*
  • Hypercalcemia / genetics*
  • Hypercalciuria / diagnosis*
  • Hypercalciuria / genetics*
  • Male
  • Mutation
  • Nephrocalcinosis / diagnosis*
  • Nephrocalcinosis / genetics*
  • Vitamin D3 24-Hydroxylase / genetics*

Substances

  • CYP24A1 protein, human
  • Vitamin D3 24-Hydroxylase