CONICET | Buscador de Institutos y Recursos Humanos

Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase.Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophagelineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bonemetabolism and structure and patients suffer from bone pain and crisis. Skeletal problems include osteopenia, osteoporosis,osteolytic lesions, and osteonecrosis. On the other hand a chronic stimulation of the immune systemis a well-accepted hallmark inthis disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher diseasein relationship with the proinflammatory state.