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J. Korean Med. Sci. · Feb 2010
Case ReportsAutosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
- Mi Yeon Kim, Alice Hyun Kyung 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, and Jae Hoon Chung.
- Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- J. Korean Med. Sci. 2010 Feb 1; 25 (2): 317-20.
AbstractHypoparathyroidism 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.
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