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A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis

  • Bae, Hyunwoo (Department of Pediatrics, Kyungpook National University, School of Medicine) ;
  • Baek, Hee Sun (Department of Pediatrics, Kyungpook National University, School of Medicine) ;
  • Jang, Hae Min (Department of Pediatrics, Kyungpook National University, School of Medicine) ;
  • Lee, Eun Joo (Department of Pediatrics, Kyungpook National University, School of Medicine) ;
  • Cho, Min Hyun (Department of Pediatrics, Kyungpook National University, School of Medicine)
  • Received : 2020.08.05
  • Accepted : 2020.10.04
  • Published : 2020.10.31

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.

Keywords

References

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