Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management.
Pathol Res Pract
; 199(3): 159-63, 2003.
Article
en En
| MEDLINE
| ID: mdl-12812317
ABSTRACT
Type-1 Gaucher's disease represents the most common lysosomal storage disorder. With the introduction of enzyme replacement therapy, many of the clinical manifestations can be controlled. The functional deficiency of the lysosomal beta-glucocerebrosidase leads to deposition of glycosylceramide in the liver, spleen, and bone marrow. We report the clinical and pathologic presentation of a patient with a florid type-1 Gaucher's disease who received long-term enzyme replacement therapy, which led to marked clinical improvement. A repeat liver biopsy performed at the time of a cholecystectomy several years after initiation of enzyme replacement therapy revealed complete resolution of Gaucher cells.
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Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Gaucher
/
Glucosilceramidasa
/
Hígado
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Pathol Res Pract
Año:
2003
Tipo del documento:
Article