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Artículo

Hyponatremia resulting from Arginine Vasopressin Receptor 2 gene mutation

Bes, David Francisco; Mendilaharzu, Hernán; Fenwick, Raymond G.; Arrizurieta, ElviraIcon
Fecha de publicación: 03/2007
Editorial: Springer
Revista: Pediatric Nephrology
ISSN: 0931-041X
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Urología y Nefrología

Resumen

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.
Palabras clave: SEIZURE , SYNDROME OF INAPPROPRIATE SECRETION OF ANTIDIURETIC HORMONE , AVPR2
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info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
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URI: http://hdl.handle.net/11336/105913
URL: https://link.springer.com/article/10.1007/s00467-006-0344-7
DOI: https://doi.org/10.1007/s00467-006-0344-7
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Articulos de INST.DE INVEST.MEDICAS
Citación
Bes, David Francisco; Mendilaharzu, Hernán; Fenwick, Raymond G.; Arrizurieta, Elvira; Hyponatremia resulting from Arginine Vasopressin Receptor 2 gene mutation; Springer; Pediatric Nephrology; 22; 3; 3-2007; 463-466
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