KMID : 1040420200240020126
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Childhood Kidney Diseases 2020 Volume.24 No. 2 p.126 ~ p.130
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A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis
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Bae Hyun-Woo
Baek Hee-Sun Jang Hae-Min Lee Eun-Joo Cho Min-Hyun
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Abstract
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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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KEYWORD
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Nephrogenic syndrome of inappropriate antidiuresis, Hyponatremia, Arginine vasopressin receptor 2, Urea
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