Terapevticheskii arkhivTerapevticheskii arkhiv0040-36602309-5342LLC Obyedinennaya Redaktsiya3233410.17116/terarkh2017891071-74Short CommunicationProgressive pulmonary hypertension in a patient with type 1 Gaucher diseasePonomarevR V-ModelS V-AverbukhO M-GavrilovA M-GalstyanG M-LukinaE A-151020178910717410042020Copyright © 2017, Consilium Medicum2017Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease — the development of pneumosclerosis due to macrophage dysfunction. The paper describes a case of progressive pulmonary hypertension in a patient with type 1 Gaucher disease.Gaucher diseasepulmonary hypertensionventricular septal defectEisenmenger’s syndromeболезнь Гошелегочная гипертензиядефект межжелудочковой перегородкисиндром Эйзенменгера[Краснопольская К.Д. Наследственные болезни обмена веществ. М.: Центр социальной адаптации и реабилитации детей «Фохат»; 2005:20-22.][Лукина Е.А. Болезнь Гоше. М.: Литера; 2011:54.][Futerman AH, Zimran A, eds. Gaucher Disease. Taylor & Francis Group, LLC; 2007:528.][Zimran A. How I treat Gaucher disease. Blood. 2011;118(6):1463-1471. https://doi.org/10.1182/blood-2011-04-308890][Pramod K Mistry, Sandra Sirrs, Alicia Chan, Mark R Pritzker, Thomas P Duffy, Marie E Grace, David P Meeker, Martin E Goldman. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002;77(1-2):91-98. https://doi.org/10.1016/S1096-7192(02)00122-1][Sarah Michelman Lo, Jun Liu, F. Chen, G. M. Pastores, J. Knowles, M. Boxer, Kirk Aleck, and Pramod K. Mistry. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inherit Metab Dis. 2011;34(3):643-650. https://doi.org/10.1007/s10545-011-9313-9][Eisenmenger V. Die Angeboren Defect der Kammer scheiderwand des Herzens. Z Klin Med. Suppl 1897;32:1.][Aleksander Kempny, Cristel S. Hjortshøj, Hong Gu, Wei Li, Alexander R Opotowsky, Michael Landzberg, Annette S Jensen, Lars Søndergaard, Mette-Elise Estensen, Ulf Thilén, Werner Budts, Barbara J Mulder, Ilja M Blok, Lidia Tomkiewicz-Pajak, Kamil Szostek, Michele D’Alto, Giancarlo Scognamiglio, Katja Prokšelj, Gerhard-Paul Diller, Konstantinos Dimopoulos, Stephen J Wort, Michael A Gatzoulis. Predictors of Death in Contemporary Adult Patients with Eisenmenger Syndrome: A Multicentre Study. Circulation. 2016 Dec. https://doi.org/10.1161/CIRCULATIONAHA.116.023033]