Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency.
Pediatr Dev Pathol
; 5(6): 597-601, 2002.
Article
em En
| MEDLINE
| ID: mdl-12370774
ABSTRACT
A 4-month-old boy, with late-onset argininosuccinate lyase (ASL) deficiency with hepatomegaly, was treated by protein restricted diet and arginine supplementation; he was followed for 3 years. Hepatomegaly and mild liver dysfunction persisted without significant hyperammonemia. He maintained normal psychomotor development to the age of 12 months, but, at 3 years of age, his developmental status is in the borderline normal range. Liver biopsy performed at 12 months of age demonstrated swollen and pale hepatocytes with abnormal glycogen deposition and mild periportal fibrosis. A subsequent liver biopsy at 3 years of age showed progressive liver fibrosis in the periportal and central areas, which extended into the liver lobule. These findings suggest that liver impairment in ASL deficiency may advance without significant hyperammonemia and underline the importance of repeated liver biopsy in this disorder, even when the plasma ammonia level is well controlled.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acidúria Argininossuccínica
/
Cirrose Hepática
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Dev Pathol
Assunto da revista:
PATOLOGIA
/
PEDIATRIA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Japão