The disease of Gaucher is a hereditary disease of accumulative nature, which is one of the most common among lysosomal pathologies. Gaucher’s disease develops due to the insufficiency of glucocerebrosidase, which is the result of the accumulation of glucocerebroside in tissues and some organs.
The Gaucher disease refers to autosomal recessive diseases. Therefore, any person can inherit a mutation of this enzyme with all the features in the same ratio, both from the father and from the mother. Thus, the degree of the disease and its severity will depend on the damage to the genes.
Patients should be under the supervision of a hematologist for life. In some cases, splenectomy is indicated. Pain in the bones requires the use of analgesics, consultation of an orthopedist. In type I intravenous injection of purified glucocerebrosidase leads to a decrease in its deposition in the liver; the possibility of reversibility of clinical manifestations when introducing an enzyme into liposomes is being studied.