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KMID : 0191120100250020317
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Journal of Korean Medical Science
2010 Volume.25 No. 2 p.317 ~ p.320
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Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
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Kim Mi-Yeon
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
Tan Alice-Hyun-Kyung
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Abstract
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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.
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KEYWORD
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Hypoparathyroidism, Hypocalcemia, Receptors, Calcium-Sensing
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