Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor

J Pediatr Endocrinol Metab. 2009 Jun;22(6):561-3. doi: 10.1515/jpem.2009.22.6.561.

Abstract

Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.

Publication types

  • Case Reports

MeSH terms

  • Calcium / blood
  • DNA Mutational Analysis
  • Humans
  • Hypercalcemia / blood
  • Hypercalcemia / genetics*
  • Infant, Newborn
  • Infant, Newborn, Diseases / blood
  • Infant, Newborn, Diseases / genetics*
  • Male
  • Polymorphism, Genetic*
  • Receptors, Calcium-Sensing / genetics*
  • Reference Values

Substances

  • CASR protein, human
  • Receptors, Calcium-Sensing
  • Calcium