Artículos de revistas
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
Fecha
2015-05Registro en:
Mucci, Juan Marcos; Rozenfeld, Paula Adriana; Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System; Hindawi Publishing Corporation; Journal of Immunology Research; 2015; 5-2015; 1-7
2314-7156
CONICET Digital
CONICET
Autor
Mucci, Juan Marcos
Rozenfeld, Paula Adriana
Resumen
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-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolism 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 system is a well-accepted hallmark in this disease. In this review we summarize the latest findings in the mechanisms leading to the bone pathology in Gaucher disease in relationship with the proinflammatory state.