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Enzyme replacement therapy with macrophage-targeted human placental glucocerebrosidase in Gaucher disease

  • R. O. Brady
  • N. W. Barton

Abstract

As part of the requirement for completion of his medical education, the French medical student Philippe C. E. Gaucher wrote a thesis in 1882, in which he described a patient with an enlarged spleen that he believed was a primary epithelioma of that organ (Gaucher, 1882). Descriptions of patients with similar presentations began to appear sporadically, and eventually the eponym “Gaucher disease” was applied to designate these individuals. The manifestations of Gaucher disease vary greatly, and three major clinical phenotypes are currently distinguished. The most prevalent is Type 1 Gaucher disease that comprises patients with involvement of systemic organs and the skeleton but the central nervous is spared The most frequent manifestations are splenomegaly, hepatomegaly, anemia, thrombocytopenia, and leukopenia. The abdomen is protuberant because of gross enlargement of the spleen and liver. The lungs may also be involved. Lymph nodes, pericardium, and the kidneys are less frequently affected. However, the skeleton is virtually always damaged. Acute episodes of bone pain and deformities of the femur are characteristic of the disorder. Other bones may also be involved, and fractures of the hip and vertebrae are not uncommon. Type 1 Gaucher disease is the most common hereditary lipid storage disorder, and it is the most prevalent genetic disease in persons of Ashkenazic Jewish ancestry where the carrier frequency may be as high as 1 in 10 persons.

Keywords

Enzyme Replacement Therapy Fabry Disease Gauche Disease Gauche Cell Exogenous Enzyme 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1991

Authors and Affiliations

  • R. O. Brady
    • 1
  • N. W. Barton
    • 1
  1. 1.Developmental and Metabolic Neurology BranchNational Institute of Neurological Disorders and Stroke National Institutes of HealthBethesdaUSA

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