Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children16210.24287/1726-1708-2016-15-2-53-58СтатьиHaematologic manifestations of Gaucher’s disease (Review of literature)Гематологические проявления болезни Гоше (обзор литературы)SmetaninaNataliya S.СметанинаНаталия Сергеевна
Russian Federation
nataliya.smetanina@fnkc.ruDmitry Rogachev Federal Research Centre of Paediatric Haematology, Oncology and Immunology, Ministry of Health of the Russian FederationФедеральный научно-клинический центр детской гематологии, онкологии, иммунологии им. Дмитрия Рогачева Минздрава РоссииN.I.Pirogov Russian National Research Medical UniversityРоссийский национальный исследовательский медицинский университет им. Н.И.Пирогова19062016152535819092018Copyright ©; 2016, «D. Rogachev NMRCPHOI»Copyright ©; 2016, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2016«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/162

Gaucher's disease is a multisystemic disease developing due to deficiency of glucocerebrosidase and accumulation of glucosylceramide and glucosyl sphingosine in lisosomes of phagocytizing macrophages. A characteristic of all types of Gaucher's disease is given. The review pays a detailed attention to analysis of haematologic manifestations of Gaucher's disease, presents findings of modern research explaining their appearance in this disease.

Болезнь Гоше - мультисистемное заболевание, развивающееся вследствие дефицита глюкоцереброзидазы и накопления глюкозилцерамида и глюкозилсфингозина в лизосомах фагоцитирующих макрофагов. Представлена характеристика всех типов болезни Гоше. Подробное внимание в обзоре уделяется анализу гематологических проявлений болезни Гоше, приводятся результаты современных исследований, объясняющие их появление при данном заболевании.

тромбоцитопениягеморрагический диатезанемияспленомегалиягаммапатии и злокачественные новообразованияболезнь Гошеthrombocytopeniahaemorrhagic diathesisanaemiasplenomegalygammopathies and malignanciesGaucheґs diseaseBrady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem Biophys Res Commun. 1965 Jan 18;18:221-5.Лукина ЕА. Болезнь Гоше. М.: Литтерра, 2011.Nagral A. Gaucherdisease. J Clin Exp Hepatol. 2014;4(1):37-50.Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Baillieres Clinical Haematology. 1997;10:657-89.Лукина ЕА, Сысоева ЕП. Болезнь Гоше: диагностика, лечение и мониторинг. В кн. «Программное лечение заболеваний системы крови», под ред. Савченко ВГ. М., 2012;773-88.Taddei TH, Kacena KA, Yang R, Malhotra A, Boxer M, Aleck KA, et al. The underrecognized progressive nature of N370S Gaucher’ disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009;84:208-14.Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences od diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologist-oncologist and opportunity for early diagnosis and intervention. Am J Hematol. 2007;82:697-701.Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006 Jun;160(6):603-8.Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-43.Гундобина ОС. Болезнь Гоше у детей: основные аспекты. 2013;14:70-3.Dreborg S, Erikson A, Hagberg B. Gaucher disease - Norrbottnian type. I. General clinical description. Eur J Pediatr. 1980 Mar;133(2):107-18.Liu J, Halene S, Yang M, Iqbal J, Yang R, Mehal WZ, et al. Gaucher disease gene GBA functions in immune regulation. Proc Nat Acad Sciences. 2012;109: 10018-23.Lecourt S, Mouly E, Freida D, Cras A, Ceccaldi R, Heraoui D, et al. A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients. PLoS One. 2013;8:e69293.Spectre G, Roth B, Ronen G, Rosengarten D, Elstein D, Zimran A, et al. Platelet adhesion defect in type 1 Gaucher disease is associated with a risk of mucosal bleeding. Br J Haematol. 2011;153:372-8.Gillis S, Hyam E, Abrahamov A, Elstein D, Zimran A. Platlet function abnormalities in Gaucher disease patients. Am J Hematol. 1999;61:103-6.Kelsey H, Christopoulos C, Gray AA, Machin SJ. Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher’s disease. J Clin Pathol. 1994; 47:162-5.Hollak CE, Levi M, Berends F, Aerts JM, van Oers MH. Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. Br J Haematol. 1997;96:470-6.Boklan BF, Sawitsky A. Factor IX deficiency in Gaucher disease. An in vitro phenomenon. Archives Intern Med. 1976;136:489-92.Billett HH, Rizvi S, Sawitsky A. Coagulation abnormality in patients with Gaucher’s disease: effect of therapy. Am J Hematol. 1996;51:234-6.Katz K, Tamary H, Lahav J, Soudry M, Cohen IJ. Increased operative bleeding during orthopaedic surgery in patients with type 1 Gaucher disease and bone involvement. Bulletin/Hospital for Joint Diseases. 1999;58:188-90.Barone R, Giuffrida G, Musso R, Carpinteri G, Fiumara A. Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type 1. J Inherit Metabol Dis. 2000;23:387-90.Giona F, Palumbo G, Amendola A, Santoro C, Mazzuconi MG. Platelet function and coagulation abnormalities in type 1 Gaucher disease patients: effects of enzyme replacement therapy (ERT). J Thrombn Haemost. 2006;4:1831-3.Deghady A, Marzouk I, El-Shayeb A, Wali Y. Coagulation abnormalities in type 1 Gaucher disease in children. Ped Hematol Oncol. 2006;23:411-7.Mitrovic M, Sumarac Z, Antic D, Bogdanovic A, Elezovic I, Vukasavljevic D, et al. Markers of coagulation activation and enhanced fibrinolysis in Gaucher type 1 patient: effects of enzyme replacement therapy. Blood cells, Molecules, and Diseases. 2012;49:58-9.Thomas AS, Mehta A, Hughes DA. Gaucher disease: haematological presentations and complications. Br J Haematol. 2014;165:427-40.Berrebi A, Malnick SD, Vorst EJ, Stein D. High incidence of factor XI deficiency in Gaucher’s disease. Am J Hematol. 1992;40:153.Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular necrosis in type I Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J of Bone and Mineral Research. 2012;27:1839-48.Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41:4-14.Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood. 2010 Nov 18;116(20):4095-8. doi: 10.1182/blood-2010-06-293902. Epub 2010 Aug 16.Hollak CE, Belmatoug N, Cole JA, Vom Dahl S, Deegan PB, Goldblatt J, et al. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol. 2012; 158:528-38.Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher Disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. J Inherit Metabol Dis. 2010a;33:769-74.Hughes D, Cappellini MD, Berger M, Van Droogenbroeck J, de Fost M, Janic D, et al. Recommendations for the management of the haematological and oncohaematological aspects of Gaucher disease. Br J Haematol. 2007 Sep;138(6):676-86. Epub 2007 Jul 26.Givol N, Goldstein G, Peleg O, Shenkman B, Zimran A, Elstein D, et al. Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease. Haemophilia. 2012;18:117-21.Zimran A, Altarescu G, Rudesky B, Abrahamov A, Elstein D. Survey of hematological aspects of Gaucher disease. Hematology. 2005a;10:151-6.Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type I Gaucher disease. Am J Hematol. 2010b;85:472-6.Franco M, Collec E, Connes P, van den Akker E, Billette de Villemeur T, et al. Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease. Blood. 2013;121:546-55.Simpson WL, Hermann G, Balwani M. Imaging of Gaucher disease. World J Radiol. 2014;6:657-68.Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type I Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113:112-9.Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, et al. Pulmonary hypertension in type I Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Gen Metabol. 2002;77:91-8.Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, et al. Expanding spectrum ofthe association between Type I Gaucher disease and cancer: a series of patients with up to 3 sequential cancer of multiple types - correlation with genotype and phenotype. Am J Hematol. 2010;85:340-5.Jurecka A, Gregorek H, Kleinotiene G, Czartoryska B, Tylki-Szymanska A. Gaucher disease and dysgammaglobulinemia: a report of 61 patients, including 18 with GD type III. Blood Cell, Molecules and Diseases. 2011;46:85-7.Rodic P, Pavlovic S, Kostic T, Suvajdzic VN, Djordjevic M, Sumarac Z, et al. Gammapathy and B lymphocyte clonality in patients with Gaucher type I disease. Blood Cells, Molecules, and Diseases. 2013;50:222-5.Rosembloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105:4569-72.deFost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, Haussinger D, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells, Molecules, and Diseases. 2006;36:53-8.Park SY, Kwak CY, Shayman JA, Kim JH. Globoside promotes activation of ERK by interaction with the epidermal growth factor receptor. Biochim Biophys Acta. 2012;1820:1141-8.Gouaze-Andersson V, Yu JY, Kreitenberg AJ, Bielawska A, Giuliano AE, Cabot MC. Ceramide and glucosylceramideupregulate expression of the multidrug resistance gene MDR1 in cancer cells. Biochim Biophys Acta. 2007;1771:1407-17.