A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis
10.3339/jkspn.2020.24.2.126
- Author:
Hyunwoo BAE
1
;
Hee Sun BAEK
;
Hae Min JANG
;
Eun Joo LEE
;
Min Hyun CHO
Author Information
1. Department of Pediatrics, Kyungpook National University, School of Medicine, Daegu, Republic of Korea
- Publication Type:3
- From:Childhood Kidney Diseases
2020;24(2):126-130
- CountryRepublic of Korea
- Language:English
-
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.
