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Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
- Kim, Mi Yeon;
- Tan, Alice Hyun Kyung;
- Ki, Chang-Seok;
- Lee, Ji In;
- Jang, Hye Won;
- ... Kim, Sun Wook;
- 외 6명
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6초록
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.
키워드
Hypoparathyroidism; Hypocalcemia; Receptors; Calcium-Sensing; NEONATAL SEVERE HYPERPARATHYROIDISM; BENIGN HYPOCALCIURIC HYPERCALCEMIA; HYPOPARATHYROIDISM
- 제목
- Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
- 저자
- 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
- 발행일
- 2010-02
- 유형
- Article
- 권
- 25
- 호
- 2
- 페이지
- 317 ~ 320
- 언어
- ENG
- 출판사
- 대한의학회
- 분량
- 4 페이지
- ISSN
- E 1598-6357
P 1011-8934