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

Hyunwoo Bae, Hee Sun Baek, Hae Min Jang, Eun Joo Lee, Min Hyun Cho
2020 Childhood Kidney Diseases  
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
more » ... d 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.
doi:10.3339/jkspn.2020.24.2.126 fatcat:5td3o47aoncyrmp25m5ffvluiq