Q:

A 9-year-old boy admintted to the hospital because of fracture of left femur due to a minor trauma

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A 9-year-old boy admintted to the hospital because of fracture of left femur due to a minor trauma, Past history revealed recurrent attacks of epistaxis and intermittent generalized bone pain.On examination, there is massive splenomegaly.  Of the following, the MOST appropriate Practical treatment of this disease is


  1. gene therapy
  2. liver transplantation
  3. enzyme replacement
  4. substrate reduction agents
  5. bone marrow transplantation

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(C). Treatment of patients with Gaucher disease type 1 includes enzyme replacement therapy. The efficacy of enzyme replacement therapy with mannose-terminated recombinant human acid B-glucosidase has definitively been demonstrated. Most symptoms (organomegaly, hematologic indices, bone pain) are reversed by enzyme replacement therapy (60 IU/kg) administered by intravenous infusion every other week and the bone involvement can be stabilized or improved

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