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A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis
Childhood Kidney Diseases ; : 126-130, 2020.
Article in English | WPRIM | ID: wpr-831207
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.
Full text: Available Index: WPRIM (Western Pacific) Language: English Journal: Childhood Kidney Diseases Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: English Journal: Childhood Kidney Diseases Year: 2020 Type: Article