Child Kidney Dis.
2020 Oct;24(2):126-130. 10.3339/jkspn.2020.24.2.126.
A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis
- Affiliations
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- 1Department of Pediatrics, Kyungpook National University, School of Medicine, Daegu, Republic of Korea
- KMID: 2508551
- DOI: http://doi.org/10.3339/jkspn.2020.24.2.126
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.
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