GAUCHERS-DISEASE - UP-TO-DATE

Gaucher's disease is an autosomal recessive inherited disorder, charac terized by genetic deficiency of lysosomial glucocerebrosidase. Its su bstrate (glycosylceramide) subsequently accumulates in cells of monocy te/macrophage origin, resulting in enlargement of the spleen and liver , skeletal lesions, and, in the mast severe phenotypes, in neurologica l disorders. Thirty-six mutations have been at present documented in t he gene encoding for the glucocerebrosidase, but four of them them (N3 70S, L444P, 84GG and IVS2+1) are really frequent, particularly in ashk enaze population. Gaucher's disease is diagnosed by the presence of Ga ucher cells, especially in bone marrow aspirate, and by assessing the glucocerebrosidase activity. The prognosis has been considerably impro ved by enzyme replacement therapy.