title: Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
abstract: This paper describes the manifestation in a child of a new syndrome characterized by unusual, severe, persistent hyponatremia associated with hyposmolarity, euvolemia, inappropriately concentrated urine and elevated natriuresis. This is the fourth case of this syndrome reported to date, and the first to be reported in a neonate. The clinical features resemble those typically observed in patients with inappropriate antidiuretic hormone secretion, although high arginine vasopressin (AVP) levels are lacking. The findings led the authors to hypothesise a nephrogenic syndrome of inappropriate antidiuresis (NSIAD). The previously described R137C gain-of-function mutation was detected by means of mutation analysis of the V2R gene. Our results indicate that NSIAD is already present during the neonatal period and that molecular analysis of the V2R receptor should therefore be carried out, in all newborns with prolonged euvolemic hyponatremia with hypo-osmolarity, high urinary sodium and normal/low or undetectable AVP levels.
authors.affiliation: Department of Pediatrics and Clinical Medicine, University of Cagliari, Cagliari, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Marcialis
authors.forename: Valeria
authors.initials: V
authors.lastname: Faà
authors.forename: Vassilios
authors.initials: V
authors.lastname: Fanos
authors.forename: Melania
authors.initials: M
authors.lastname: Puddu
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Pintus
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Rosatelli
mesh_terms: D001127:Arginine Vasopressin / Q000378:metabolism; D004231:Diuresis / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007010:Hyponatremia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D017483:Receptors, Vasopressin / Q000235:genetics; D012964:Sodium / Q000652:urine*; D013577:Syndrome; D014882:Water-Electrolyte Balance / Q000235:genetics / Q000502:physiology*
chemical_list: D017483:Receptors, Vasopressin; D001127:Arginine Vasopressin; D012964:Sodium