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Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Pediatric Nephrology volume 23, pages 2267–2271 (2008)Cite this article

Abstract

This paper describes the manifestaton 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.

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Authors and Affiliations

  1. Department of Pediatrics and Clinical Medicine, Section of Neonatal Intensive Care Unit, University of Cagliari, Cagliari, Italy

    Maria Antonietta Marcialis, Vassilios Fanos, Melania Puddu & Maria Cristina Pintus

  2. Istituto di Neurogenetica e Neurofarmacologia, National Research Council, Cagliari, Italy

    Valeria Faà & Antonio Cao

  3. Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy

    Maria Cristina Rosatelli

Authors
  1. Maria Antonietta Marcialis
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  2. Valeria Faà
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  3. Vassilios Fanos
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  4. Melania Puddu
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  5. Maria Cristina Pintus
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  6. Antonio Cao
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  7. Maria Cristina Rosatelli
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Correspondence to Maria Cristina Rosatelli.

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Marcialis, M.A., Faà, V., Fanos, V. et al. Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis. Pediatr Nephrol 23, 2267–2271 (2008). https://doi.org/10.1007/s00467-008-0913-z

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  • DOI: https://doi.org/10.1007/s00467-008-0913-z

Keywords

  • Euvolemia
  • Hyponatremia
  • SIADH
  • Vasopressin receptor