A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program

• Main Authors: Min-Ji Kim (Author), Jae Young Cho (Author), Ji Sook Park (Author), Eun Sil Park (Author), Ji-Hyun Seo (Author), Jae-Young Lim (Author), Hyang-Ok Woo (Author), Hee-Shang Youn (Author)
• Format: Book
• Published: Korean Society of Pediatric Nephrology, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone. Congenital nephrogenic DI is caused by the arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2) gene mutation; the AVPR2 genetic...