A case of idiopathic renal hypouricemia / 소아과
Korean Journal of Pediatrics
;
: 489-492, 2007.
Artigo
em Inglês
| WPRIM
| ID: wpr-216253
ABSTRACT
Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ácido Úrico
/
Pseudo-Hipoaldosteronismo
/
Seguimentos
/
Diagnóstico
/
Nefrolitíase
/
Injúria Renal Aguda
/
Hematúria
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2007
Tipo de documento:
Artigo
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