Radiodiagnostic methods in identifying visceral and osteo-articular changes in gaucher disease type I and in evaluation of treatment effectiveness
Medenikov A.A., Vyshedkevich E.D., Shtentsel’ R.E., Efimtsev A.Yu.,Maschenko I.A., Bezrukikh V.A., Salogub G.N., Trufanov G.E.
Gaucher disease is the most common genetically determined lysosomal storage disease caused by a deficiency of the β-glucosidase enzyme involved in the intra-lysosomal cleavage of glycolipids. As a result, they accumulate excessively in macrophages with the
transformation of the latter into the so-called Gaucher cells, which infiltrate the tissues with a developed reticuloendothelial system (bone marrow, liver and spleen), causing their damage. Severe pathomorphological changes in this disease are primarily diagnosed using radiation diagnostic methods, which play one of the key roles in assessing the effectiveness of treatment of patients receiving pathogenetic therapy. The purpose of this review is to demonstrate the whole variety of methods of radiological diagnosis of intraorgan changes in Gaucher disease type I, including the most modern technologies, a description of their advantages and disadvantages, and the determination of a universal method that allows to provide the most comprehensive information about the state of target organs as at the stage of primary diagnosis and at the stage of evaluating the effectiveness of treatment. |
V.A. Almazov National medical research center. Saint-Petersburg, Russia. |
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Keywords: Gaucher disease, radiology, magnetic resonance imaging, bone marrow, visceral manifestations, enzyme replacement therapy.
Corresponding author: Medenikov A.A., e-mail: Этот e-mail адрес защищен от спам-ботов, для его просмотра у Вас должен быть включен Javascript
For citation: Medenikov A.A., Vyshedkevich E.D., Shtentsel’ R.E., Efimtsev A.Yu.,Maschenko I.A., Bezrukikh V.A., Salogub G.N., Trufanov G.E. Radiodiagnostic methods in identifying visceral and osteo-articular changes in gaucher disease type I and in evaluation of treatment effectiveness. REJR 2021; 11(2):46-67. DOI: 10.21569/2222-7415-2021-11-2-46-67.
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Received: 16.10.20 Accepted: 25.03.21