A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis
Childhood Kidney Diseases
;
: 126-130, 2020.
Artículo
en Inglés
| WPRIM
| ID: wpr-831207
ABSTRACT
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked genetic condition caused by a gain-of-function mutation of arginine vasopressin receptor 2 gene, AVPR2. We report the case of a male neonate diagnosed with NSIAD based on his DNA sequence of the AVPR2 gene and the clinical course. He demonstrated a complete correction of hyponatremia using oral urea. We suggest that (1) sequencing analysis of the AVPR2 gene ought to be done in newborns with prolonged euvolemic hyponatremia, hypo-osmolality, high urinary sodium and normal/low or undetectable AVP levels, and that (2) oral urea is a safe and effective treatment option in infants diagnosed with NSIAD until the patients are grown-up.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Inglés
Revista:
Childhood Kidney Diseases
Año:
2020
Tipo del documento:
Artículo
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