End-stage Renal Disease Caused by Primary Hyperoxaluria / 대한신장학회잡지
Korean Journal of Nephrology
;
: 981-985, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-229208
ABSTRACT
Primary hyperoxaluria is a rare autosomal recessive inherited metabolic disease which results from endogenous overproduction of oxalic acid. It causes variant phenotypes from renal failure in infancy to mere urolithiasis in late adulthood. We report a case of primary hyperoxaluria in a 11-year-old boy. He presented with recurrent multiple renal stones since 3 years of age. He had renal failure and markedly increased hyperoxaluria (568.26 microgram/mg of creatinine (normal 0.04-0.15)) and his stones consisted of a mixture of calcium oxalate (30%) and calcium phosphate (10%) in contrast to pure calcium oxalate monohydrate in the other primary hyperoxaluria type 1 patients. A renal biopsy showed interstitial cellular infiltration with crystals which are birefringent under polarized light within the tubules. His general conditions were improved after hemodialysis treatment. For definite cure of disease, combined liver-kidney transplantation is considered.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Biópsia
/
Hiperoxalúria
/
Hiperoxalúria Primária
/
Oxalato de Cálcio
/
Cálcio
/
Diálise Renal
/
Ácido Oxálico
/
Creatinina
/
Insuficiência Renal
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Nephrology
Ano de publicação:
2005
Tipo de documento:
Artigo
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