Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
J Korean Med Sci
; 25(2): 317-20, 2010 Feb.
Article
em En
| MEDLINE
| ID: mdl-20119591
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de Detecção de Cálcio
/
Hipocalcemia
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Korean Med Sci
Assunto da revista:
MEDICINA
Ano de publicação:
2010
Tipo de documento:
Article