|
KMID : 1235920130050020097
|
|
Medical Journal of Catholoc University of Daegu
2013 Volume.5 No. 2 p.97 ~ p.99
|
|
|
A Case of Congenital Nephrogenic Diabetes Insipidus Presenting Fever and Failure to Thrive in an Infant
|
|
Park Jin-Gyeong
Kim Bong- Jae
Hong Suk-Jin
|
|
|
Abstract
|
|
|
Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder of the kidney characterized by the
inability of the kidney to concentrate urine in response to arginine vasopressin. Polyuria and polydipsia are the
cardinal clinical manifestations of the disease. Ninety percent of congenital NDI patients are males with the X-linked
recessive form of disease. The mutation is in the arginine vasopressin (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 4 months after birth. His genomic DNA analysis identified a AVPR2
gene mutation.
|
|
|
KEYWORD
|
|
|
Nephrogenic Diabetes Insipidus , Vasopressin Receptors
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|