Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea

J Korean Med Sci. 2010 Feb;25(2):317-20. doi: 10.3346/jkms.2010.25.2.317. Epub 2010 Jan 19.

Abstract

Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.

Keywords: Hypocalcemia; Hypoparathyroidism; Receptors, Calcium-Sensing.

Publication types

  • Case Reports

MeSH terms

  • Bone Density Conservation Agents / therapeutic use
  • Calcium Carbonate / therapeutic use
  • Female
  • Heterozygote
  • Humans
  • Hydroxycholecalciferols / therapeutic use
  • Hypocalcemia / diagnosis
  • Hypocalcemia / drug therapy
  • Hypocalcemia / genetics*
  • Mutation
  • Parathyroid Hormone / analysis
  • Pedigree
  • Receptors, Calcium-Sensing / genetics*
  • Republic of Korea
  • Sequence Analysis, DNA
  • Young Adult

Substances

  • Bone Density Conservation Agents
  • Hydroxycholecalciferols
  • Parathyroid Hormone
  • Receptors, Calcium-Sensing
  • Calcium Carbonate
  • alfacalcidol