Document Detail

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
MedLine Citation:
PMID:  18622631     Owner:  NLM     Status:  MEDLINE    
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.
Maria Antonietta Marcialis; Valeria Faà; Vassilios Fanos; Melania Puddu; Maria Cristina Pintus; Antonio Cao; Maria Cristina Rosatelli
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-07-12
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  23     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-10-31     Completed Date:  2009-04-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  2267-71     Citation Subset:  IM    
Department of Pediatrics and Clinical Medicine, University of Cagliari, Cagliari, Italy.
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MeSH Terms
Arginine Vasopressin / secretion
Diuresis / genetics,  physiology*
Hyponatremia / diagnosis*,  genetics,  physiopathology
Infant, Newborn
Mutation, Missense / genetics
Receptors, Vasopressin / genetics
Sodium / urine*
Water-Electrolyte Balance / genetics,  physiology*
Reg. No./Substance:
0/Receptors, Vasopressin; 113-79-1/Arginine Vasopressin; 7440-23-5/Sodium

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