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

作者：Kim Mi Yeon; Tan Alice Hyun Kyung; Ki Chang Seok; Lee Ji In; Jang Hye Won; Shin Hyun Won; Kim Sun Wook; Min Yong Ki; Lee Myung Shik; Lee Moon Kyu; Kim Kwang Won; Chung Jae Hoon^*

来源：Journal of Korean Medical Science, 2010, 25(2): 317-320.

DOI：10.3346/jkms.2010.25.2.317

• Hypoparathyroidism
• Hypocalcemia
• Receptors
• Calcium-Sensing

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.

• 出版日期2010-2