Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
Journal of Korean Medical Science
; : 317-320, 2010.
Article
em En
| WPRIM
| ID: wpr-207481
Biblioteca responsável:
WPRO
ABSTRACT
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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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Hormônio Paratireóideo
/
Linhagem
/
Carbonato de Cálcio
/
Análise de Sequência de DNA
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Receptores de Detecção de Cálcio
/
Conservadores da Densidade Óssea
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República da Coreia
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Heterozigoto
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Hidroxicolecalciferóis
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Hipocalcemia
Limite:
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2010
Tipo de documento:
Article