Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations
Yonsei Medical Journal
;
: 126-130, 2006.
Artigo
em Inglês
| WPRIM
| ID: wpr-116910
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Poliúria
/
Análise Mutacional de DNA
/
Receptores de Vasopressinas
/
Diabetes Insípido Nefrogênico
/
Mutação de Sentido Incorreto
/
Hidronefrose
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2006
Tipo de documento:
Artigo
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