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Modern Clinical Guidelines for the Management of Patients with Gaucher Disease

https://doi.org/10.15690/pf.v21i6.2842

Abstract

This article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given. It has been shown that the only effective method of treating Gaucher disease is pathogenetic enzyme replacement therapy, which relieves the main clinical manifestations of the disease, improving the quality of life of patients and without having pronounced side effects. The main errors of diagnosis and management of patients, as well as unjustified prescriptions for the treatment of this disease, are indicated.

About the Authors

Inga V. Anisimova
N.P. BoNot declaredchkov Medical Genetics Research Centre
Russian Federation

Moscow


Disclosure of interest:

Not declared



Galina V. Baydakova
N.P. Bochkov Medical Genetics Research Centre
Russian Federation

Moscow


Disclosure of interest:

Not declared



Aleksander A. Baranov
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov First Moscow State Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Nato D. Vashakmadze
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Elena A. Vishneva
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Olga S. Gundobina
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation

Moscow


Disclosure of interest:

Not declared



Elena A. Dobrynina
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation

Moscow


Disclosure of interest:

Not declared



Ekaterina Yu. Zaharova
N.P. Bochkov Medical Genetics Research Centre
Russian Federation

Moscow


Disclosure of interest:

Not declared



Elena V. Kaytukova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Elena V. Komarova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation

Moscow


Disclosure of interest:

Not declared



Sergey I, Kutsev
N.P. Bochkov Medical Genetics Research Centre
Russian Federation

Moscow


Disclosure of interest:

Not declared



Alla E. Lavrova
Privolzhsky Research Medical University
Russian Federation

Nizhny Novgorod


Disclosure of interest:

Not declared



Svetlana V. Mihaylova
Russian Children’s Clinical Hospital
Russian Federation

Moscow


Disclosure of interest:

Not declared



Goar B. Movsisyan
National Medical Research Center for Children’s Health
Russian Federation

Moscow

 


Disclosure of interest:

Not declared



Lyudmila P. Nazarenko
Research Institute of Medical Genetics
Russian Federation

Tomsk


Disclosure of interest:

Not declared



Leyla S. Namazova-Baranova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Ekaterina A. Nikolaeva
Yu. E. Veltischev Research and Clinical Institute for Pediatrics
Russian Federation

Moscow


Disclosure of interest:

Not declared



Tatiana M. Pervunina
Almazov National Medical Research Centre
Russian Federation

Saint Petersburg


Disclosure of interest:

Not declared



Natalia L. Pechatnikova
Morozov Children’s City Clinical Hospital
Russian Federation

Moscow


Disclosure of interest:

Not declared



Nelya S. Pogosyan
All-Russian Society of Orphan Diseases
Russian Federation

Moscow


Disclosure of interest:

Not declared



Aleksander S. Potapov
I.M. Sechenov First Moscow State Medical University; National Medical Research Center for Children’s Health
Russian Federation

Moscow


Disclosure of interest:

Not declared



Aleksander A. Pushkov
National Medical Research Center for Children’s Health
Russian Federation

Moscow


Disclosure of interest:

Not declared



Svetlana A. Repina
N.P. Bochkov Medical Genetics Research Centre
Russian Federation

Moscow


Disclosure of interest:

Not declared



Kirill V. Savostyanov
National Medical Research Center for Children’s Health
Russian Federation

Moscow


Disclosure of interest:

Not declared



Liliya R. Selimzyanova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Olga Ya. Smirnova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation

Moscow


Disclosure of interest:

Not declared



Natalia S. Smetanina
Dmitry Rogachev National Medical Research Center of pediatric Hematology, Oncology and Immunology
Russian Federation

Moscow


Disclosure of interest:

Not declared



Tatiana V. Strokova
Federal Research Centre of Nutrition, Biotechnology and Food Safety
Russian Federation

Moscow


Disclosure of interest:

Not declared



Andrey N. Surkov
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Marina V. Fedoseenko
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
Russian Federation

Moscow


Disclosure of interest:

Not declared



Tatiana T. Batysheva
Scientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of Russia
Russian Federation

Disclosure of interest:

Not declared



Olga V. Bykova
Scientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of Russia
Russian Federation

Moscow


Disclosure of interest:

Not declared



Yuriy A. Klimov
Scientific and Practical Center for Pediatric Psychoneurology
Russian Federation

Moscow


Disclosure of interest:

Not declared



Sergey V. Tihonov
Scientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of Russia
Russian Federation

Moscow


Disclosure of interest:

Not declared



References

1. Lukina EA. Gaucher disease: up-to-date diagnostics and treatment. Clinical Obcohematology. 2009;2(2):196–199. (In Russ).

2. Baldellou A, Andria G, Campbell PE, et al. Paediatric nonneuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004;163(2):67–75. https://doi.org/10.1007/s00431-003-1363-z

3. stone DL, Tayebi N, Orvisky E, et ai. Giucocerebrosidase gene mutations in patients with type 2 Gaueher disease. Hum Mutat 2000;15(2):181-188. https://doi.org/10.1002/(sici)1098-1004(200002)15:2<181::aid-humu7>3.0.eo;2-s

4. Do J, MeKinney C, Sharma R Sidransky E. Giucocerebrosidase and its reievanee to Parkinson disease. Mo/ Neurodegener. 2019;14(1):36. https://doi.org/10.1186/sl3024-019-0336-2

5. Krasnopoi'skaya KD. Nasledstvennye bolezni obmena veshchestv. Reference manuai for doctors. Moscow: Fokhat; 2005. 364 p. (In Russ).

6. Bukina TM. Biokhimicheskaya i molekulyarno-geneticheskaya kharakteristika bolezni Goshe и rossiiskikh patsientov. [dissertation]. Moscow; 2005. 114 p. (In Russ).

7. Grabowski G, Zimran A, ida H. Gaucher disease types I and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90(Suppl 1):12-18. https://doi.org/10.1002/aJh.24063

8. Nalysnyk L, Rotella R Simeone J, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65-73. https://doi.org/10.1080/10245332.2016.1240391

9. Bodamer 0, Hung C. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr. 2010;160(23-24):600-604. https://doi.org/10.1007/sl0354-010-0814-l

10. Sibille A, Eng C, Kim S, et al. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 1993;52(6):1094-1101.

11. Sidransky E, Bottler A, Stubblefield B, Ginns E. DNA mutational analysis of type I and type 3 Gaucher patients: How well do mutations predict phenotype? Hum Mutat 1994;3(l):25-28. https://doi.org/10.1002/humu.1380030105

12. Grabowski G. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012;2012:13-18. https://doi.org/10.1182/asheducation-2012.l.13

13. Zimran A, WaJnraJch M, Hernandez B, Pastores GM. Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease. OrphanetJ Rare Dis. 2018;13(1):36. https://doi.org/10.1186/sl3023-018-0776-8

14. Revel-Vilk S, Szer J, Mehta A, Zimran A. Howwemanage Gaucher Disease in the era of choices. Br J Haematol, 2018;182(4):467-480. https://doi.org/10.llll/bjh.15402

15. Movsisyan GB. Optimizatsiya okazaniya meditsinskoi pomoshchi detyam s bolezn'yu Goshe V Rossiiskoi Federatsii. [abstract of dissertation]. Moscow; 2018.185 p. (In Russ).

16. Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis. 2001;24(3):319-327. https://doi.org/10.1023/a:1010514614570

17. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4-14. https://doi.org/10.1053/J.seminhematol.2004.07.009

18. Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158(16):1754-1760. https://doi.org/lO.lOOl/archinte.158.16.1754

19. Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. EurJPediatr. 2004;163(2):58-66. https://doi.org/10.1007/s00431-003-1362-0

20. Kaplan R Andersson H, Kacena К, Yee J. The clinical and demographic characteristics of non-neuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603-608. https://doi.org/10.1001/archpedi.160.6.603

21. Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson's disease in type I Gaucher disease. J Inherit Metab Dis. 2010;33(2):167-173. https://doi.org/10.1007/sl0545-010-9055-0

22. Pastores G, Barnett N, Bathan R Kolodny E. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis. 2003;26(7):641-645. https://doi.org/10.1023/ b:boli.0000005623.60471.51

23. Huang W Zhang X, Chen W. Gaucher disease: a lysosomal neurodegenerative disorder. Eur Rev Wed Pharmacol Sci. 2015;19(7):1219-1226.

24. Tylki-Szymanska A, Vellodi A, EI-BeshIawyA, etal. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis. 2010;33(4):339-346. https://doi.org/10.1007/sl0545-009-9009-6

25. Rosenbloom B, Weinreb N. Gaucher Disease: A Comprehensive Review. Crit Rev Oncog. 2013;18(3):163-175. https://doi.org/10.1615/critrevoncog.2013006060

26. Weinthal JA. Prognosis of patients with Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6):10-11.

27. Kallish S, Kaplan R Adiseaseseverityscoringsystem for children with type I Gaucher disease. Eur J Pediatr. 2013;172(l):39-43. https://doi.org/10.1007/s00431-012-1830-5

28. Hadas-Halpern I, Deeb M, Abrahamov A, et al. Gaucher disease: spectrum of sonographic findings in the liver. J Ultrasound Med. 2010;29(5):727-733. https://doi.org/10.7863/Jum.2010.29.5.727

29. Miller A, Brown LK, Pastores GM, et al. Pulmonary involvement in type I Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet 2003;63(5):368-376. https://doi.org/10.1034/J.1399-0004.2003.00060.x

30. Andrade-CamposM, AIfonsoR Irun Petal. Diagnosisfeaturesof pediatric Gaucher. OrphanetJ Rare Dis. 2017;12(1):84. https://doi.org/10.1186/sl3023-017-0627-z

31. Carubbi F, Cappellini MD, Fargion S, et al. Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist. DigLiverDis. 2020;52(4):368-373. https://doi.org/10.1016/J.dld.2020.01.004

32. Hughes D, Sidransky E. Gaucher disease: Initial assessment, monitoring, and prognosis. In: UpToDate. Available online: https://www.uptodate.com/contents/gaucher-disease-initial-assessment-monitoring-and-prognosis. Accessed on December 06, 2024.

33. Giraldo R Andrade-Campos M. Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease. J Blood Med. 2021;12:1045-1056. https://doi.org/10.2147/JBM.S279756

34. Stein R Yang R, Liu J, et al. Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity. J Inherit Metab Dis. 2011;34(2):429-437. https://doi.org/10.1007/S10545-010-9271-7

35. Wine E, Yaniv I, Cohen I. Hyperimmunoglobulinemia in pediatric-onset type I Gaucher disease and effects of enzyme replacement therapy. J Pediatr Hematol Oncol, 2007;29(7):451-457. https://doi.org/10.1097/MPH.0b013e31806451d3

36. Mekinian A, Stirnemann J, Belmatoug N, et al. Ferritinemia during type I Gaucher disease: Mechanisms and progression under treatment. Blood Cells Mol Dis. 2012;49(l):53-57. https://doi.org/10.1016/J.bcmd.2012.04.002

37. Motta I, Consonni D, Stroppiano M, et al. Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia. Sc/ Rep. 2021;11(1):2594. https://doi.org/10.1038/s41598-021-82296-z

38. Regenboog M, van Kuilenburg AB, VerheiJ J, et al. Hyperferritinemiaand iron metabolism in Gaucher disease: Potential pathophysiological implications. Blood Rev. 2016;30(6):431-437. https://doi.org/10.1016/J.blre.2016.05.003

39. Mikosch R Reed M, Baker R, etal. Changesofbonemetabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat. Calcif Tissue Int 2008;83(l):43-54. https://doi.org/10.1007/s00223-008-9143-4

40. Ioscovich A, Fadeev D, Kenet G, et al. Thromboelastography as a Surrogate Marker of Perisurgical Hemostasis in Gaucher Disease. Clin Appl Thromb Hemost 2016;22(7):693-697. https://doi.org/10.1177/1076029615578165

41. Deghady A, Marzouk I, El-Shayeb A, Wali Y. Coagulation abnormalities in type 1 Gaucher disease in children. Pediatr Hematol Oncol. 2006;23(5):411–417. https://doi.org/10.1080/08880010600623232

42. Stroppiano M, Calevo M, Corsolini F, et al. Validity of β-Dglucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients. Clin Biochem. 2014;47(13-14):1293–1296. https://doi.org/10.1016/j.clinbiochem.2014.06.005

43. Rolfs A, Giese A, Grittner U, et al. 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. https://doi.org/10.1371/journal.pone.0079732

44. Murugesan V, Chuang WL, Liu J, et al. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082– 1089. https://doi.org/10.1002/ajh.24491

45. Aerts JM, van Breemen M, Bussink A, et al. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr. 2008;97(457):7–14. https://doi.org/10.1111/j.16512227.2007.00641.x

46. Mazyrko EV, Rostovtsev MV, Korobkin AV. Gaucher Disease. Radiodiagnostic Experience in the Field of Bone Pathology. Medical Visualisation. 2010;(2):48–53. (In Russ).

47. Faden M, Krakow D, Ezgu F, et al. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet Part A. 2009;149A(6):1334–1345. https://doi.org/10.1002/ajmg.a.32253

48. Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Sceletal Radiol. 2008;37(3):185– 188. https://doi.org/10.1007/s00256-007-0425-0

49. Rosenthal DI, Mayo-Smith W, Goodsitt MM, et al. Bone and bone marrow changes in Gaucher disease: evaluation with quantitative CT. Radiology. 1989;170(1 Pt 1):143–146. https://doi.org/10.1148/radiology.170.1.2909087

50. van Dahl S, Poll L, Di Rocco M. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin. 2006;22(6):1045–1064. https://doi.org/10.1185/030079906X104623

51. Skripnikova IA, Shcheplyagina LA, Novikov VE, et al. Vozmozhnosti kostnoi rentgenovskoi densitometrii v klinicheskoi praktike. Moscow: FGBU “NMIC TPM”; 2015. 36 p. (In Russ).

52. Giuffrida G, Cappellini M, Carubbi F, et al. Management of bone disease in Gaucher disease type 1: clinical practice. Adv Ther. 2014;31(12):1197–1212. https://doi.org/10.1007/s12325014-0174-0

53. Hollak C, van Weely S, van Oers M, Aerts J. Marked elevation of plasms chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 1994;93(3):1288–1292. https://doi.org/10.1172/JCI117084

54. Rizk TM, Ariganjoye RO, Alsaeed GI. Gaucher disease. Unusual presentation and mini-review. Neurosciences (Riyadh). 2015;20(3):271–276. https://doi.org/10.17712/nsj.2015.3.20140622

55. Pinto F, Nassone E, Ismail M, et al. Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique. J Inborn Errors Metab Screen. 2021;9(1). https://doi.org/10.1590/2326-4594JIEMS-2020-0022

56. Maan W, Karjoo M, Beg M. Report of Four Children with Gaucher Disease and Review of Literature. Int J Pediatr. 2016;4(8):2287– 2293.

57. Poffenberger CN, Inati S, Tayebi N, et al. EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review. Mol Genet Metab. 2020;131(3):358–363. https://doi.org/10.1016/j.ymgme.2020.10.010

58. Weinreb NJ, Goker-Alpan O, Kishnani PS, et al. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab. 2022;136(1):4–21. https://doi.org/10.1016/j.ymgme.2022.03.001

59. Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis. 2009;32(5):660–664. https://doi.org/10.1007/s10545-009-1164-2

60. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. Iran J Child Neurol. 2019;13(1):7–24.

61. Altunbas G, Ercan S, Inanç IH, et al. Extensive vascular and valvular involvement in Gaucher disease. Asian Cardiovasc Thorac Ann. 2015;23(4):446–448. https://doi.org/10.1177/0218492313513598

62. Kishnani PS, Al-Hertani W, Balwani M, et al. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. Mol Genet Metab. 2022;135(2):154– 162. https://doi.org/10.1016/j.ymgme.2021.12.009

63. Movsisyan GB, Surkov AN, Namazova-Baranova LS, Savostyanov KV. Features of the diagnosis of Gaucher disease in children in the Russian Federation. Russian Journal of Pediatric Hematology and Oncology. 2020;7(2):42–53. (In Russ). https://doi.org/10.21682/2311-1267-2020-7-2-42-53

64. Hughes DA, Pastores GM. Gaucher Disease. In: GeneReviews [Internet]. Adam MP, Feldman J, Mirzaa GM, et al., eds. Seattle (WA): University of Washington, Seattle; 1993–2024. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1269. Accessed on December 06, 2024.

65. Dinur T, Bauer P, Beetz C, et al. Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? Int J Mol Sci. 2022;23(3):1627. https://doi.org/10.3390/ijms23031627

66. Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172(4):447–458. https://doi.org/10.1007/s00431012-1771-z

67. van Dahl S, Mengel E. Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Pract Res Clin Gastroenterol. 2010;24(5):619–628. https://doi.org/10.1016/j.bpg.2010.09.001

68. Marcucci G, Zimran A, Bembi B, et al. Gaucher disease and bone manifestations. Calcif Tissue Int. 2014;95(6):477–494. https://doi.org/10.1007/s00223-014-9923-y

69. NORD. Gaucher Disease. In: National Organization for Rare Disorders (NORD): Official website. Available online: https:// rarediseases.org/rare-diseases/gaucher-disease. Accessed on December 06, 2024.

70. Leonart LP, Fachi MM, Böger B, et al. A Systematic Review and Meta-analyses of Longitudinal Studies on Drug Treatments for Gaucher Disease. Ann Pharmacother. 2023;57(3):267–282. https://doi.org/10.1177/10600280221108443

71. Goker-Alpan O. Optimal therapy in Gaucher disease. Ther Clin Risk Manag. 2010;6:315–323. https://doi.org/10.2147/tcrm.s6955

72. Starzyk K, Richards S, Yee J, et al. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007;90(2):157–163. https://doi.org/10.1016/j.ymgme.2006.09.003

73. Glurazyme: drug label. Registration certificate No. ЛП-№(003797)-(РГ-RU). Registration date: November 24, 2003. In: State Register of Medicines: Official website. (In Russ). Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=bddc9fae-e918-4ea9-8e74-b63b01d953da. Ссылка активна на 06.12.2024.

74. Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36(3):543–553. https://doi.org/10.1007/s10545-012-9528-4

75. Vpriv: drug label. Registration certificate No. ЛП-№(002738)-(РГ-RU). Registration date: July 11, 2023. In: State Register of Medicines: Official website. (In Russ). Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=af8ba05e-dcad-4442-af95-ab4357860062. Ссылка активна на 06.12.2024.

76. Gonzalez DE, Turkia HB, Lukina EA, et al. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol. 2013;88(33):166–171. https://doi.org/10.1002/ajh.23381

77. Pastores GM, Rosenbloom B, Weinreb N, et al. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet Med. 2014;16(5):359–366. https://doi.org/10.1038/gim.2013.154

78. Giraldo P, et al. Safety and efficacy of velaglucerase alfa in children with type 1 Gaucher disease: 2-year experience. Poster presented at the American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting. Charlotte, North Carolina, USA. 2012, March 27–31.

79. Tantawy AAG, El-Beshlawy A, Marzouk I, et al. Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease. J Inborn Errors Metab Screen. 2018;6. https://doi.org/10.1177/2326409818765564

80. Sagara R, Ishigaki M, Otsuka M, et al. Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan. Orphanet J Rare Dis. 2021;16(1):502. https://doi.org/10.1186/s13023021-02119-2

81. Eliso: drug label. Registration certificate No. ЛП-004410. Registration date: August15, 2017. In: StateRegister of Medicines: Official website. (In Russ).] Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=2e6257b6-268a4db4-9b72-0b0e38030b9d. Ссылка активна на 06.12.2024.

82. Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, et al. Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease. Blood Cells Mol Dis. 2015;54(1):9–16. https://doi.org/10.1016/j.bcmd.2014.10.002

83. Hughes D, Mikosch P, Belmatoug N, et al. Gaucher Disease in Bone: From Pathophysiology to Practice. J Bone Miner Res. 2019;34(6):996–1013. https://doi.org/10.1002/jbmr.3734

84. Bembi В, Ciana G, Mengel E, et al. Bone complications in children with Gaucher disease. Br J Radiol. 2002;75(Suppl 1):A37– A43. https://doi.org/10.1259/bjr.75.suppl_1.750037

85. Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab. 2011;104(4):438–447. https://doi.org/10.1016/j.ymgme.2011.08.004

86. Accordant Health Services. CVS Caremark. Exercise and Gaucher Disease. Available online: http://www.cvscaremarkspecialtyrx.com/patients/condition-resources-tools/lysosomal-storage-disorders/gaucher-disease/staying-healthy/exerc. Accessed on December 06, 2024.

87. Marzouk I, Deghady A, Omar OM, Ashour RS. Hyperimmunoglobulinemia and IgG Subclass Abnormalities in Children With Gaucher Disease. J Pediatr Hematol Oncol. 2019;41(7):e416–e420. https://doi.org/10.1097/MPH.0000000000001574

88. Puri RD, Kapoor S, Kishnani PS, et al. Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India — Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatr. 2018;55(2):143–153.

89. Pasternack MS. Prevention of infection in patients with impaired splenic function. In: UpToDate. Available online: https://www.uptodate.com/contents/prevention-of-infection-in-patients-with-impaired-splenic-function?topicRef=3994&source=see_link. Accessed on December 06, 2024.

90. Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 2017;18(2):441. https://doi.org/10.3390/ijms18020441

91. Сметанина Н.С. Гематологические проявления болезни Гоше // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. — 2016. — Т. 15. — № 2. — С. 53–58. — https://doi.org/10.24287/1726-1708-2016-15-2-53-58 [Smetanina NS. Haematologic manifestations of Gaucher’s disease (Review of literature). Pediatric Hematology/Oncology and Immunopathology. 2016;15(2):53–58. (In Russ). https://doi.org/10.24287/17261708-2016-15-2-53-58]

92. Bohte A, van Dussen L, Akkerman E, et al. Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage. PLoS One. 2013;8(3):e57507. https://doi.org/10.1371/journal.pone.0057507

93. de Lédinghen V, Le Bail B, Rebouissoux L, et al. Liver Stiffness Measurement in Children Using FibroScan: Feasibility Study and Comparison With Fibrotest, Aspartate Transaminase to Platelets Ratio Index, and Liver Biopsy. J Pediatr Gastroenterol Nutr. 2007;45(4):443–450. https://doi.org/10.1097/MPG.0b013e31812e56ff

94. Kriventsova NA, Tereshchenko GV. Bone marrow cellularity assessment using magnetic resonance imaging in children with aplastic anemia. Pediatric Hematology/Oncology and Immunopathology. 2023;22(1):73–77. (In Russ). https://doi.org/10.24287/1726-1708-2023-22-1-73-77

95. Gawad Tantawy AA, Moneam Adly AA, Madkour SS, Salah El-Din NY. Pulmonary manifestations in young Gaucher disease patients: Phenotype-genotype correlation and radiological findings. Pediatr Pulmonol. 2020;55(2):441–448. https://doi.org/10.1002/ppul.24544


Review

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Anisimova I.V., Baydakova G.V., Baranov A.A., Vashakmadze N.D., Vishneva E.A., Gundobina O.S., Dobrynina E.A., Zaharova E.Yu., Kaytukova E.V., Komarova E.V., Kutsev S.I., Lavrova A.E., Mihaylova S.V., Movsisyan G.B., Nazarenko L.P., Namazova-Baranova L.S., Nikolaeva E.A., Pervunina T.M., Pechatnikova N.L., Pogosyan N.S., Potapov A.S., Pushkov A.A., Repina S.A., Savostyanov K.V., Selimzyanova L.R., Smirnova O.Ya., Smetanina N.S., Strokova T.V., Surkov A.N., Fedoseenko M.V., Batysheva T.T., Bykova O.V., Klimov Yu.A., Tihonov S.V. Modern Clinical Guidelines for the Management of Patients with Gaucher Disease. Pediatric pharmacology. 2024;21(6):551-568. (In Russ.) https://doi.org/10.15690/pf.v21i6.2842

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