Oliguria and acute renal dysfunction in a six-month-old infant / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 203-207, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-351374
ABSTRACT
The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1). Her parents were heterozygous carriers. PH1 should be considered when the children have abnormal renal function or recurrent renal calculi or have a family history of these symptoms. AGXT gene analysis is an important method for PH1 diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oligúria
/
Hiperoxalúria Primária
/
Injúria Renal Aguda
/
Genética
/
Transaminases
/
Mutação
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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