J Korean Med Sci.  2010 Feb;25(2):317-320. 10.3346/jkms.2010.25.2.317.

Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea

• Kim MY
• Tan AH
• Ki CS
• Lee JI
• Jang HW
• Shin HW
• Kim SW
• Min YK
• Lee MS
• Lee MK
• Kim KW
• Chung JH

• KMID: 1779268
• DOI: http://doi.org/10.3346/jkms.2010.25.2.317

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.

Keyword

Hypoparathyroidism; Hypocalcemia; Receptors, Calcium-Sensing

MeSH Terms

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