A Case of Autosomal Dominant Nephrogenic Diabetes Insipidus with Renal Failure / 대한신장학회잡지
Korean Journal of Nephrology
;
: 965-969, 2004.
Artigo
em Coreano
| WPRIM
| ID: wpr-224247
ABSTRACT
Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder. The X-linked recessive NDI, most of congenital DI (>90%), has been known to be caused by mutation of the AVPR2 gene. Less than 10% of congenital NDI has an autosomal recessive inheritance and mutations of the AQP2 gene. Although several adult cases of congenital NDI were reported in Korea, all of them had an X-linked recessive inheritance and no azotemia. We have experienced a case of autosomal dominant NDI with renal failure. A 38-year-old man was admitted due to polyuria and polydipsia. In his family, his grandfather, father, three sisters and nieces showed similar symptoms. On admission, serum creatinine level was 4.9 mg/dL and creatinine clearance decreased to 19.9 mL/min. On ultrasonography, both kidneys showed severe hydronephrosis. We performed water deprivation and vasopressin stimulation test, and the result was consistent with NDI. On gene mutational analysis of the two different genes, AVPR2 and AQP2, no specific mutations were found except polymorphism.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Poliúria
/
Privação de Água
/
Testamentos
/
Vasopressinas
/
Ultrassonografia
/
Diabetes Insípido Nefrogênico
/
Creatinina
/
Irmãos
/
Insuficiência Renal
/
Azotemia
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Journal of Nephrology
Ano de publicação:
2004
Tipo de documento:
Artigo
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