2687-0940Challenges in modern medicine2687-094010INTERNAL DISEASESCLINICAL CASES OF THE FAMILIAL FORM OF GAUCHER DISEASE TYPE ICLINICAL CASES OF THE FAMILIAL FORM OF GAUCHER DISEASE TYPE IKurkinaN. V.KurkinaN. V.nadya.kurckina@yandex.ruVishnyakovaA. A.VishnyakovaA. A.vishnyackowalina@yandex.ru202043100

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.

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.

GaucherDiseaseenzymopathyglucocerebrosidaseenzyme replacement therapysplenomegalyGaucherDiseaseenzymopathyglucocerebrosidaseenzyme replacement therapysplenomegalyСписок литературы1. Vorob’ev A.I. 2005. Rukovodstvo po gematologii. [Guideto Hematology]. M.: N’yudiamed. Tom 2.2. Lukina E.A., Sysoeva E.P., Mamonov V.E., Yatsik G.A., Tsvetaeva N.V., Gundobina O.S., Finogenova N.A., Smetanina N.S., Novikov P.V. 2014. Nacional’nye klinicheskierekomendacii «Diagnostika i lechenie bolezni Goshe» [National Clinical recommendations «Diagnosis and treatment of Gaucher disease»]. 13–4.3. Lukina E.A. 2014. Bolezn’ Goshe [Gaucher disease]. M.: Littera, 56 s.4. Lukina K.A., Fevraleva I.S., Sysoeva E.P., Mamonov V.E., Sudarikov A.B., Lukina E.A. 2013. Harakteristika genotipov pacientov s bolezn’y Goshe I tipa v Rossiyskoy Federacii [Characteristics of geno-types of patients with Gaucher I type disease in the Russian Federation]. Terapevticheskiy arhiv. 7: 72–75.5. Krasnopol’skay K.D. 2005. Nasledstvennye bolezni obmena veshestv [Hereditary metabolic diseases]. M.: Medicina.6. Solov’eva A.A., Ycyk G.A., Ponomarev R.V., Lukina K.A., Kostina I.E., Mamonov V.E., Lukina E.A. 2019. Obratimye I neobratimye izmeneniya kostno-sustavnoy sistemy pri bolezny Goshe I tipa [Reversible and irreversible changes in the bone and joint system in Gaucher I type I disease]. Gema-tologiya i transfuziologiya, 64 (1): 49–59.7. Solov’eva A.A. 2019. Harakteristika I monitorinh izmeneniy kostno-sustavnoy sistemy u vzroslych pacientov s bolezn’y Goshe I tipa [Characteristics and monitoring of changes in the bone and joint system in adult patients with Gaucher I type I disease]. Aftoreferat dissertacii na soiskanie ucheno’ stepeni kandidata nauk. M, 26s.8. Lukina K.A., Fevralyeva I.S., Sysoyeva E.P., Sudarikov A.B., Lukina E.A. 2014. The molecular genetic diagnostic of gaucher disease type I. Article in Klinicheskaialaboratornaiadiagnostika. 1:53-55.9. Katz R., Booth T., Hargunani R., Wylie P. 2010. Radiological aspects of Gaucher disease, 40 (12): 1505–1513.10. Lukina K., Yatsyk G., Mamonov V., Maksimov A., Sysoeva E., Lukina E. 2014. Radiological as-sessment of the severity of bone involvement in patients with Gaucher disease. Poster of Congress ECR.S.2383.