De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Annals of Pediatric Endocrinology & Metabolism
; : 107-111, 2018.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-714969
Biblioteca responsável:
WPRO
ABSTRACT
Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cálcio
/
Seguimentos
/
Mutação de Sentido Incorreto
/
Receptores de Detecção de Cálcio
/
Hipercalciúria
/
Hipocalcemia
/
Hipoparatireoidismo
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Limite:
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2018
Tipo de documento:
Artigo