1Department of Pediatrics, College of Medicine Dongguk University 2Department of Pediatrics, College of Medicine Dongguk University 3Department of Pediatrics, College of Medicine Dongguk University 4Department of Pediatrics, College of Medicine Dongguk University 5Department of Pediatrics, College of Medicine Dongguk University 6Department of Pediatrics, College of Medicine Dongguk University 7Department of Pediatrics, College of Medicine Dongguk University 8Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine 9Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine
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ABSTRACT
Nephrogenic diabetes insipidus(NBI) is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone; arginine vasopressin(AVP). Polyuria with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Ninety percent of congenital nephrogenic diabetes insipidus patients are males with the X-linked recessive form of the disease; the mutation is in the AVP receptor 2 gene(AVPR2), which is located in chromosomal region Xq28. We report a case of NDI who suffered from unexplained fever and failure to thrive, which has been recognized since about ,3 months after birth. His genomic DNA analysis identified a novel AVPR2 gene mutation as W200C. (J Korean Soc Pediatr Nephrol 2005;9:269-274)
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