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Gaucher Disease

2001; Wolters Kluwer; Volume: 83; Issue: 5 Linguagem: Inglês

10.2106/00004623-200105000-00016

1535-1386

Henry J. Mankin, Daniel I. Rosenthal, Ramnik J. Xavier,

Neurogenetic and Muscular Disorders Research

Gaucher disease is an uncommon autosomal genetic disorder characterized by the deposit of large amounts of a lipid, glucosylceramide, in the cells of the spleen, liver, and bone marrow. The disease occurs because of a genetic fault in the production of a specific enzyme, β-glucosidase, which ordinarily destoys the lipid material. Bone disease consists of a failure to remodel (Erlenmeyer-flask deformity), osteopenia, and medullary and subchondral osteonecrosis, all of which cause, in some patients, severe crippling and disability. A major discovery was the capacity to modify the β-glucosidase by mannose substitution, which allowed it to enter the cell and destroy the lipid. This treatment has greatly altered the lives of patients with this disease, and, when sufficient enzyme was given, has greatly restored the patient's osseous structure. Gaucher disease is an uncommon disorder, but it offers a spectacular model of the approach now being taken to define and treat many genetic disorders, a number of which are orthopaedic in their manifestations.