Abstract
We report on the case of a girl with type 1 Gaucher's disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher's disease, alternative strategies such as fractionated or further increased ERT, gene therapy, or glucosyltransferase inhibitor should be explored.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Adolescent
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Adult
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Child
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Fatal Outcome
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Female
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Gaucher Disease / complications
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Gaucher Disease / drug therapy*
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Gaucher Disease / enzymology
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Glucosylceramidase / metabolism
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Glucosylceramidase / therapeutic use*
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Humans
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Hypertension, Portal / etiology
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Hypertension, Portal / pathology
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Leukocytes / enzymology
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Liver / pathology
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Liver Cirrhosis / etiology*
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Liver Cirrhosis / mortality
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Liver Cirrhosis / pathology
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Liver Failure / etiology
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Liver Failure / pathology
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Male
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Recombinant Proteins / therapeutic use
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Treatment Outcome
Substances
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Recombinant Proteins
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alglucerase
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Glucosylceramidase