De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Annals of Pediatric Endocrinology & Metabolism
;
: 107-111, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-714969
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Calcio
/
Estudios de Seguimiento
/
Mutación Missense
/
Receptores Sensibles al Calcio
/
Hipercalciuria
/
Hipocalcemia
/
Hipoparatiroidismo
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Humanos
/
Recién Nacido
Idioma:
Inglés
Revista:
Annals of Pediatric Endocrinology & Metabolism
Año:
2018
Tipo del documento:
Artículo
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