Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea.
10.3346/jkms.2010.25.2.317
- Author:
Mi Yeon KIM
1
;
Alice Hyun TAN
;
Chang Seok KI
;
Ji In LEE
;
Hye Won JANG
;
Hyun Won SHIN
;
Sun Wook KIM
;
Yong Ki MIN
;
Myung Shik LEE
;
Moon Kyu LEE
;
Kwang Won KIM
;
Jae Hoon CHUNG
Author Information
1. Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. thyroid@skku.edu
- Publication Type:Case Reports
- Keywords:
Hypoparathyroidism;
Hypocalcemia;
Receptors, Calcium-Sensing
- MeSH:
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
- From:Journal of Korean Medical Science
2010;25(2):317-320
- CountryRepublic of Korea
- Language:English
-
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.
