A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene
Journal of the Korean Society of Pediatric Nephrology
;
: 172-178, 2011.
Article
in Korean
| WPRIM
| ID: wpr-59137
ABSTRACT
Nephrogenic diabetes insipidus is a rare genetic renal disease characterized by insensitivity of the kidney to the anti-diuretic effect of vasopressin in spite of elevated serum anti-diuretic hormone (ADH). Failure of the kidney to respond to ADH results in impaired osmoregulation and water reabsorption of the kidney, therefore, nephrogenic diabetes insipidus presents with a large amount of hypotonic polyuria, polydipsia, and dehydration. We report our experience of two familial cases of nephrogenic diabetes insipidus in brothers both having c.910+1delG in intron 2 of the AVPR2 gene with the brief review of related literatures.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polyuria
/
Water-Electrolyte Balance
/
Vasopressins
/
Water
/
Introns
/
Diabetes Insipidus, Nephrogenic
/
Dehydration
/
Siblings
/
Polydipsia
/
Kidney
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Society of Pediatric Nephrology
Year:
2011
Type:
Article
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