Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations
Yonsei Medical Journal
; : 126-130, 2006.
Article
in En
| WPRIM
| ID: wpr-116910
Responsible library:
WPRO
ABSTRACT
Most cases of hydronephrosis are caused by urinary tract obstruction. However, excessive polyuric syndrome rarely gives rise to non-obstructive hydronephrosis, megaureter, and a distended bladder. The authors report here on two cases of congenital nephrogenic diabetes insipidus (NDI) with severe bilateral hydronephrosis and megaureter. It is Interesting that the patients were symptomless except for their polyuria, and they both presented with bilateral hydronephrosis. Fluid deprivation testing revealed the presence of AVP resistant NDI. Gene analysis for these patients showed the AVP receptor 2 (V2R) missense mutations (Q225X and S126F), which have previously been reported on in other studies. We made the diagnosis of NDI by using a physiologic test, and we confirmed it by mutation analysis of the V2R gene.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Polyuria
/
DNA Mutational Analysis
/
Receptors, Vasopressin
/
Diabetes Insipidus, Nephrogenic
/
Mutation, Missense
/
Hydronephrosis
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Yonsei Medical Journal
Year:
2006
Document type:
Article