A Pediatric Case of -related Nephrogenic Syndrome of Inappropriate Antidiuresis

• Autori principali: Hyunwoo Bae (Autore), Hee Sun Baek (Autore), Hae Min Jang (Autore), Eun Joo Lee (Autore), Min Hyun Cho (Autore)
• Natura: Libro
• Pubblicazione: Korean Society of Pediatric Nephrology, 2020-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...