OLIVERI Maria Beatriz
congresos y reuniones científicas
MALNUTRITION AND OSTEOPENIA IN PATIENTS WITH GAUCHER DISEASE
OLIVERI BEATRIZ; PARISI MS; GOLDSTEIN G; OCHOA F; BAGUR A
Santiago de Chile
Simposio; Simposio Latinoamericanode Enfermedades de Depósito Lisosomal; 2004
INTRODUCTION: Gaucher disease is caused by decreased activity of glucocerebrosidase with accumulation of glucocerebrosides in the macrophages of various organs like liver, spleen, lung, kidney, bone marrow. 80% of patients with Gaucher disease Tipe l (GD) have bone involvement and it has been reported hipermetabolism in Gaucher patients with just partial and variable improvement during enzime replacement therapy. CONCLUSIONS: GD patients presented osteopenia and severe malnutrition with marked reduction of fatty mass. The cause of osteopenia is probably multifactorialz increase of bone remodelling (with a more relevant resortion than bone formation, malnutrition, etc). Despite that in this group of patients treatment with ERT was not sufficient to prevent CC alterations and osteopenia, we found that patients with higher doses where less affected.