Gaucher disease in children: what has changed in the 21st century
https://doi.org/10.21682/2311-1267-2019-6-4-19-24
Abstract
Gaucher disease (GD), code E75.2, is the most common form of hereditary enzymopathies united in the group of lysosomal diseases with autosomal recessive type of inheritance. The occurrence of GD is caused by a mutation of the gene responsible for the synthesis of the enzyme в-glucocerebrosidase (acid в-glucosidase), which is involved in the hydrolytic cleavage of glucosylceramide (a component of cell membranes) into glucose and ceramide. Insufficient activity (or insufficient amount) of в-glucocerebrosidase leads to the accumulation of glucosylceramide inside the cells of the reticuloendothelial system, which are thus converted into Gaucher cells. Clinically, this is expressed by a polysystemic disease with progressive hepatosplenomegaly, hematological disorders and lesions of the bones of the skeleton, which leads to severe pain syndrome, increased bone fragility and as a consequence — to severe disability. The “gold standard” of GD treatment is currently enzyme replacement therapy. To increase the availability of drug therapy and optimize approaches to the treatment of children with GD the search and development of new drugs is carried out.
About the Authors
M. B. Belogurova
Saint-Petersburg State Pediatric Medical University, Ministry of Health of Russia; Almazov National Medical Research Centre, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, Head of the Department of Oncology, Pediatric Oncology and Radiotherapy at the St. Petersburg SPMU, Leading Scientific Collaborator of Research Institute of Oncology and Hematology at the Almazov NMRC.
2 Litovskaya St., S.-Petersburg, 194100; 2 Akkuratova St., S.-Petersburg, 197341
Yu. V. Dinikina
Saint-Petersburg State Pediatric Medical University, Ministry of Health of Russia; Almazov National Medical Research Centre, Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Associate Professor Department of Oncology, Pediatric Oncology and Radiotherapy at the St. Petersburg State SPMU, Head of the Department of Chemotherapy for Hematologic Diseases and Bone Marrow Transplantation for Children at the Almazov NMRC.
2 Litovskaya St., S.-Petersburg, 194100; 2 Akkuratova St., S.-Petersburg, 197341
D. A. Kudlay
GENERIUM, JSC
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, General Director.
10 Testovskaya St, Moscow, 123112
A. Yu. Borozinets
GENERIUM, JSC
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Medical Advisor.
10 Testovskaya St, Moscow, 123112
References
1. Gupta P., Pastores G. Pharmacological treatment of pediatric Gaucher disease. Expert Rev Clin Pharmacol 2018;11(12):1183-94. doi: 10.1080/17512433.2018.1549486.
2. Gundobina O.S., Savostyanov K.V., Pushkov A.A., Belogurova M.B., Bukina T.M., Zakharova E.Yu., Mikhailova S.V., Novikov P.V. Federal clinical guidelines for providing care for children with Gaucher disease. SPb., 2015. 26 p. (In Russ.).
3. Baranov A.A., Namazova-Baranova L.S., Gundobina O.S., Lukina E.A., Gevorkyan A.K., Savostyanov K.V., Pushkov A.A., Vishneva E.A., Movsisyan G.B. Management of children with Gaucher disease. Modern clinical guidelines. Pediatricheskaya farmakologiya = Pediatric Pharmacology 2016;13(3):244-50. (In Russ.).
4. Grabowski G.A., Petsko G.A., Kolodny E.H. Gaucher disease. In: The online metabolic and molecular bases of inherited disease (www.ommbid.com). New York: McGraw-Hill, 2006 (revised July 2010).
5. Cox T.M. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 2001;24(Suppl 2):106-21. doi: 10.1023/a:1012496514170.
6. Gaucher P.C.E. De l’epithelioma primitive de la rate, hypertrophie idiopathique de la rate sans lucemie. MD Thesis, Paris, 1882.
7. Brill N.E., Mandelbaum F.S., Libman E. Primary splenomegaly-Gaucher type. Report on one of four cases occurring in a single generation in one family. Am J of Med Science 1905;129:491-504.
8. Brady R.O., Kanfer J., Shapiro D. The metabolism of glucocerebrosides. Purufication and properties of a glucocerebroside -cleaving enzyme from spleen tissue. J Biolog Chem 1965;240:39-43. PMID: 14253443.
9. Zub N.V. Gaucher disease: prevalence, semiotics, quality of life, and the clinical and economic rationale for enzyme replacement therapy. Thesis abstract of ... Cand. of Sci. (Med.). M., 2010. (In Russ.).
10. Gaucher Disease. Eds. A.H. Futerman, A. Zimran. Boca Raton, FL: Taylor & Francis, 2007. 528 p.
11. Медвестник. Портал российского врача: [Электронный ресурс]. М., 2017. URL: https://medvestnik.ru/content/news/V-Rossii-razrabatyvaetsya-programmapodderjivaushei-terapii-dlya-pacientov-s-orfannymi-zabolevaniyami.html.
12. Movsisyan G.B., Gundobina O.S., Namazova-Baranova L.S., Savostyanov K.V., Pushkov A.N., Chernikov V.V., Mazanova N.N., Romanyuk A.M., Smirnov V.I. Demographic, clinical and genetic characteristics of child Gaucher disease patients in Russia: pediatric register data. Pediatric pharmacology 2016;13(4):354-61. (In Russ.).
13. Allen M.J., Myer B.J., Khokher A.M., Rushton N., Cox T.M. Pro-inflammatory cytokines and the pathogenesis of Gaucher’s disease: increased release of interleukin-6 and interleukin-10. QJM 1997;90(1):19-25. doi: 10.1093/qjmed/90.1.19.
14. Hammert L.C., Ball E.D. Hematologic complications associated with Gaucher disease. Gaucher Clin Persp 1997;5(2):17-9.
15. Vellodi A. Lysosomal storage disorders. Br J Haemat 2005;128(4):413-31. doi: 10.1111/j.1365-2141.2004.05293.x.
16. Cox T.M. Gaucher disease: clinical profile and therapeutic developments. Biologics 2010;6(4):299-313. doi: 10.2147/BTT.S7582.
17. Barton N.W., Brady R.O., Dambrosia J.M., Di Bisceglie A.M., Doppelt S.H., Hill S.C., Mankin H.J., Murray G.J., Parker R.I., Argoff C.E. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Eng J Med 1991;324(21):1464-70. doi: 10.1056/NEJM199105233242104.
18. Kallish S., Kaplan P. A disease severity scoring system for children with type 1 Gaucher disease. Eur J Pediatr 2013;172:39-43. doi: 10.1007/s00431-012-1830-5.
19. Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future. Mol Genet Metab 2011;104(4):438-47. doi: 10.1016/j.ymgme.2011.08.004.
20. Harris C.M., Taylor D.S., Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics 1999;30(6):289-93. doi: 10.1055/s-2007-973507.
21. Wolf P., Alcalay R.N., Liong C., Cullen E., Pauciulo M.W., Nichols W.C., Gan-Or Z., Chung W.K., Faulkner T., Bentis C., Pomponio R.J., Ma X., Kate Zhang X., Keutzer J.M., Oliva P. Tandem mass spectrometry assay of p-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay. Mol Genet Metab 2018;123(2):135-9. doi: 10.1016/j.ymgme.2017.10.011.
22. Dahl N., Lagerstrom M., Erikson A., Pettersson U. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 1990;47(2):275-8. PMID: 2378352.
23. Mignot C., Gelot A., Bessieres B., Daffos F., Voyer M., Menez F., Fallet Bianco C., Odent S., Le Duff D., Loget P., Fargier P., Costil J., Josset P., Roume J., Vanier M.T., Maire I., Billette de Villemeur T. Perinatal-lethal Gaucher disease. Am J Med Genet A 2003;120A(3):338-44. doi: 10.1002/ajmg.a.20117.
24. Stowens D.W., Teitelbaum S.L., Kahn A.J., Barranger J.A. Skeletal complications of Gaucher diseases. Medicine 1985;64(5):310-22. doi: 10.1097/00005792-198509000-00003.
25. Barranger J., Ginns E.l. Glucosylceramide lipidoses: Gaucher Disease. The metabolic basis of inherited disease. NewYork; McGraw-Hill, 1989. Pp. 1677-1698.
26. Rolfs A., Giese A.K., Grittner U., Mascher D., Elstein D., Zimran A., Bottcher T., Lukas J., Hubner R., Golnitz U., Rohle A., Dudesek A., Meyer W., Wittstock M., Mascher H. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One 2013;8(11):e79732. doi: 10.1371/journal.pone.0079732.
27. Kaplan P., Baris H., De Meirleir L., Di Rocco M., El-Beshlawy A., Huemer M., Martins A.M., Nascu I., Rohrbach M., Steinbach L., Cohen I.J. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 2013;172(4):447-58. doi: 10.1007/s00431-012-1771-z.
28. Pastores G.M., Petakov M., Giraldo P., Rosenbaum H., Szer J., Deegan P.B., Amato D.J., Mengel E., Tan E.S., Chertkoff R., Brill-Almon E., Zimran A. A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase. Blood Cells Mol Dis 2014;53(4):253-60. doi: 10.1016/j.bcmd.2014.05.004.
29. Mistry P.K., Weinreb N.J., Kaplan P., Cole J.A., Gwosdow A.R., Hangartner T. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis 2011;46(1):66-72. doi: 10.1016/j.bcmd.2010.10.011.
30. Biegstraaten M., Cox T.M., Belmatoug N., Berger M.G., Collin-Histed T., Vom Dahl S., Di Rocco M., Fraga C., Giona F., Giraldo P., Hasanhodzic M., Hughes D.A., Iversen P.O., Kiewiet A.I., Lukina E., Machaczka M., Marinakis T., Mengel E., Pastores G.M., Plockinger U., Rosenbaum H., Serratrice C., Symeonidis A., Szer J., Timmerman J., Tylki-Szymanska A., Weisz Hubshman M., Zafeiriou D.I., Zimran A., Hollak C.E.M. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. Blood Cells Mol Dis 2018;68:203-8. doi: 10.1016/j.bcmd.2016.10.008.
31. Degterev M.B., Smolov M.A., Vishnevskiy A.Yu., Shukurov R.R. Physicochemical characterization of an original and biosimilar imiglucerase by mass spectrometry methods. In: Biotechnology: state and development prospects. Materials of the international congress, 2019.Pp. 302-303. (In Russ.).
32. Guidance for Industry Scientific Considerations in Demonstrating Biosimilarity to a Reference Product CDER/CBER/ 2015.
33. Ivanov R., Sekaryova G., Kravtsova O., Kudlay D., Lukyanov S., Tikhonova I., Dyomin A., Maksumova L., Nikitina I., Obukhov A., Zaitsev D., Stepanov A., Nosyreva M., Samsonov M. Rules for conducting research on bio-analogous medicines (bio-analogs). Farmakokinetika i farmakodinamika = Pharmacokinetics and Pharmacodynamics 2014;1:21-36. (In Russ.).
34. Decision of the Council of the Eurasian Economic Commission No. 89 dated November 3, 2016 “On the Approval of the Rules for Conducting Research on Biological Medicines of the Eurasian Economic Union”. Astana, 2016. 714 p. (In Russ.).
35. Fitilev S.B., Vozzhaev A.V., Shkrebneva I.I., Kudlay D.A., Gapchenko E.V., Markova O.A., Borozinets A.Yu., Kazarov A.A., Pantyushenko M.S. Results of an open randomized comparative cross-sectional clinical trial of phase I to assess the safety and pharmacokinetics of the drug Glurazyme (imiglucerase) in comparison with the reference drug in healthy volunteers. Onkogematologiya = Oncohematology 2019;14(4):73-83. (In Russ.).
36. Sysoeva E.P., Ponomarev R.V., Lukina K.A., Chavynchak R.B., Korotkova S.B., Markova O.A., Gapchenko E.V., Shuster A.M., Kudlay D.A., Lukina E.A. Evaluation of the effectiveness and safety of the use of the biosimilar drug Glurazyme® (imiglucerase) for the treatment of Gaucher disease. Gematologiya i transfuziologiya = Hematology and Transfusiology 2020;65(1). Article is in print. (In Russ.).
Review
For citations:
Belogurova M.B., Dinikina Yu.V., Kudlay D.A., Borozinets A.Yu. Gaucher disease in children: what has changed in the 21st century. Russian Journal of Pediatric Hematology and Oncology. 2019;6(4):19-24. (In Russ.) https://doi.org/10.21682/2311-1267-2019-6-4-19-24
Views:
733
Email this article 