La Revue de medecine interne · 2001
[Adult Gaucher disease].
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Stirnemann J, Belmatoug N
Аннотация
PURPOSE: This review presents the clinical, biological and therapeutic aspects of adult Gaucher disease.
CURRENT KNOWLEDGE AND KEY POINTS: Gaucher disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta-glucocerebrosidase. The enzymatic defect leads to the accumulation of the lipid glucocerebroside in liver, spleen and bone marrow. Patients with Gaucher disease have been classified into three types. Type 1 is the most frequent and non-neuronopathic, with enlarged liver and spleen and bone damage. Biological abnormalities are found: visceral infiltration (pancytopenia, cholestasis), macrophage damage (angiotensin-converting enzyme increase, ferritin increase, immunoglobulin increase, hemostasis abnormalities) and lysosomal damage (acid phosphatase tartrate-resistant increase, chitotriosidase increase). Enzyme replacement therapy has become available, has proven effectiveness in many patients and has successfully reversed many of the manifestations of the disorder.
FUTURE PROSPECTS AND PROJECTS: The new biological abnormalities must help in treatment management. Gene transfer and oral treatment must be taken into account and validated in large clinical studies.
CURRENT KNOWLEDGE AND KEY POINTS: Gaucher disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta-glucocerebrosidase. The enzymatic defect leads to the accumulation of the lipid glucocerebroside in liver, spleen and bone marrow. Patients with Gaucher disease have been classified into three types. Type 1 is the most frequent and non-neuronopathic, with enlarged liver and spleen and bone damage. Biological abnormalities are found: visceral infiltration (pancytopenia, cholestasis), macrophage damage (angiotensin-converting enzyme increase, ferritin increase, immunoglobulin increase, hemostasis abnormalities) and lysosomal damage (acid phosphatase tartrate-resistant increase, chitotriosidase increase). Enzyme replacement therapy has become available, has proven effectiveness in many patients and has successfully reversed many of the manifestations of the disorder.
FUTURE PROSPECTS AND PROJECTS: The new biological abnormalities must help in treatment management. Gene transfer and oral treatment must be taken into account and validated in large clinical studies.