Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
World J Pediatr
; 12(2): 243-5, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-26684317
ABSTRACT
BACKGROUND:
Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.METHODS:
A case of a Chinese boy with APRT deficiency presenting with severe acute kidney injury secondary to obstructive uropathy from multiple renal calculi was reviewed.RESULTS:
The patient underwent staged removal of the calculi. Infrared spectrometry of the renal calculi showed 2,8-dihydroxyadenine. APRT deficiency was confirmed with abolished APRT enzyme activity in red blood cells. He was started on allopurinol and low purine diet with complete resolution of the residual calculi.CONCLUSION:
APRT deficiency should be considered in patients with multiple radiolucent renal calculi.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Obstrução Ureteral
/
Obstrução do Colo da Bexiga Urinária
/
Adenina Fosforribosiltransferase
/
Cálculos Renais
/
Urolitíase
/
Injúria Renal Aguda
/
Erros Inatos do Metabolismo
Limite:
Humans
/
Infant
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article