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

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 hyp...

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Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811305/
https://www.ncbi.nlm.nih.gov/pubmed/20119591
http://dx.doi.org/10.3346/jkms.2010.25.2.317
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author 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
author_facet 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
author_sort Kim, Mi Yeon
collection PubMed
description 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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spelling pubmed-28113052010-02-01 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 Shin, Hyun Won Kim, Sun Wook Min, Yong-Ki Lee, Myung-Shik Lee, Moon-Kyu Kim, Kwang-Won Chung, Jae Hoon J Korean Med Sci Case Report 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. The Korean Academy of Medical Sciences 2010-02 2010-01-19 /pmc/articles/PMC2811305/ /pubmed/20119591 http://dx.doi.org/10.3346/jkms.2010.25.2.317 Text en © 2010 The Korean Academy of Medical Sciences. http://jkms.org/index.php?main=terms This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0 (http://jkms.org/index.php?main=terms) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
title Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
title_full Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
title_fullStr Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
title_full_unstemmed Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
title_short Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
title_sort autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in korea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811305/
https://www.ncbi.nlm.nih.gov/pubmed/20119591
http://dx.doi.org/10.3346/jkms.2010.25.2.317
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