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
in English
| WPRIM
| ID: wpr-207481
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parathyroid Hormone
/
Pedigree
/
Calcium Carbonate
/
Sequence Analysis, DNA
/
Receptors, Calcium-Sensing
/
Bone Density Conservation Agents
/
Republic of Korea
/
Heterozygote
/
Hydroxycholecalciferols
/
Hypocalcemia
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2010
Type:
Article
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