IDIM 12530
INSTITUTO DE INVESTIGACIONES MEDICAS
Unidad Ejecutora - UE
artículos
Título:
Hyponatremia resulting from Arginine Vasopresin Receptor 2 gene mutation
Autor/es:
DAVID FRANCISCO BES-HERNÁN MENDILHARZU-RAYMOND G FENWICK-ELVIRA ARRIZURIETA
Revista:
PEDIATRIC NEPHROLOGY
Referencias:
Año: 2007 p. 463 - 466
ISSN:
0931-041X
Resumen:
Abstract Chronic hyponatremia, unless associated with
extracellular fluid volume expansion, is an infrequent
electrolyte imbalance in pediatrics. We report an infant
with chronic hyponatremia suggestive of a syndrome of
inappropriate secretion of antidiuretic hormone (SIADH),
in the absence of ADH secretion. A mutation was found in
the same codon of the gene that results in a loss-offunction
of arginine vasopressin receptor 2 (AVPR2)
observed in congenital nephrogenic diabetes insipidus. In
this case, a gain-of- function of AVPR 2 was found to be
responsible for a SIADH-like state.Chronic hyponatremia, unless associated with
extracellular fluid volume expansion, is an infrequent
electrolyte imbalance in pediatrics. We report an infant
with chronic hyponatremia suggestive of a syndrome of
inappropriate secretion of antidiuretic hormone (SIADH),
in the absence of ADH secretion. A mutation was found in
the same codon of the gene that results in a loss-offunction
of arginine vasopressin receptor 2 (AVPR2)
observed in congenital nephrogenic diabetes insipidus. In
this case, a gain-of- function of AVPR 2 was found to be
responsible for a SIADH-like state.
Keywords Seizure . Syndrome of inappropriate secretion of
antidiuretic hormone . AVPR2 .Water excretion .
Nephrogenic syndrome of inappropriate antidiuresis .
Hypo-osmolarity syndrome of inappropriate antidiuresisSeizure . Syndrome of inappropriate secretion of
antidiuretic hormone . AVPR2 .Water excretion .
Nephrogenic syndrome of inappropriate antidiuresis .
Hypo-osmolarity syndrome of inappropriate antidiuresis
