Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Alternative label

• MARCIALIS MA, FAÀ V, FANOS V, PUDDU M, PINTUS MC, CAO A, ROSATELLI MC. (2008)
  Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis
  in Pediatric nephrology (Berl. West)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• MARCIALIS MA, FAÀ V, FANOS V, PUDDU M, PINTUS MC, CAO A, ROSATELLI MC. (literal)

Pagina inizio

• 2267 (literal)

Pagina fine

• 2271 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 23 (literal)

Rivista

• Pediatric nephrology (Rivista)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Pediatrics and Clinical Medicine-Section of Neonatal Intensive Care Unit, University of Cagliari, Cagliari, Italy Istituto di Neurogenetica e Neurofarmacologia, National Research Council, Cagliari, Italy Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy (literal)

Titolo

• Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis (literal)

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. (literal)

Prodotto di

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)

Autore CNR

• VALERIA FAA' (Unità di personale interno)
• ANTONIO CAO (Persona)

Incoming links:

Autore CNR di

• VALERIA FAA' (Unità di personale interno)
• ANTONIO CAO (Persona)

Prodotto

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Pediatric nephrology (Rivista)