A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
Yonsei Medical Journal
; : 255-258, 2006.
Article
en En
| WPRIM
| ID: wpr-51470
Biblioteca responsable:
WPRO
ABSTRACT
Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal dominant inheritance. A heterozygous mutation of E297K (GAG -> AAG, exon 4) of CaSR gene was found in 3 family members. To our knowledge, it is the first confirmed case of FBHH with CaSR gene mutation in Korea.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Hormona Paratiroidea
/
Linaje
/
ADN
/
Enzimas de Restricción del ADN
/
Exones
/
Salud de la Familia
/
Análisis de Secuencia de ADN
/
Receptores Sensibles al Calcio
/
Genes Dominantes
/
Heterocigoto
Límite:
Adult
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Yonsei Medical Journal
Año:
2006
Tipo del documento:
Article