CLINICAL CASES OF THE FAMILIAL FORM OF GAUCHER DISEASE TYPE I
Gaucher disease is a lysosomal disease of accumulation with an autosomal recessive type of inheritance. Mutations of the glucocerebrosidase gene lead to the development of the disease, which is manifested by the cumulative in the cytoplasm of macrophages of lipids and the appearance of «Gaucher cells». Accumulation of non-cleaved metabolic products in the cytoplasm of macrophages, contributes the production of these cells pro-inflammatory cytokines, autocrin stimulation of monocytopoesis and increase the number of macrophages in the spleen, liver, lungs, bone marrow. This leads to the violation of multiple functions of these cells, as well as disorders of the regulation of hemopoesis and metabolism of bone tissue, which is the basis of cytopenic syndrome and damage to the bone-joint system.
A clinical case of Gaucher disease type I detection in close relatives – sisters on the basis of hepatosplenomegaly, immune cytopenia, specific damage to the bone-joint system and results of enzyme diagnosis is considered. Against the background of enzyme replacement therapy (ERT) with imiglucerase there is a stable course of the disease without signs of progression. The use of recombinant drugs for ERT is characterized by good tolerability and lack of toxicity.
Kurkina N.V., Vishnyakova А.A. 2020. Clinical cases of the familial form of Gaucher disease type I. Challenges in Modern Medicine, 43(1): 46–53 (in Russian). DOI
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