PRIMENA ENZIMSKE SUPSTITUCIONE TERAPIJE KOD PACIJENATA SA GOŠEOVOM BOLESTI TIPA 1: ISKUSTVA JEDNOG CENTRA
Sažetak
Gošeova (Gaucher) bolest jeste lipozomalna bolest nakupljanja koja se nasleđuje autozomno recesivno, a u njenoj osnovi je mutacija gena koji kodira enzim glukocerebrozidazu. Do nagomilavanja glukocerebrozida u makrofazima jetre, slezine, koštane srži, a ređe u plućima i u drugim organima, dolazi usled smanjene sinteze enzima, nedostatka ili poremećaja funkcije enzima ili deficita sapozina C (aktivatora enzima). Klinička podela Gošeove bolesti zasniva se na odsustvu (tip 1) ili prisustvu (tip 2 i tip 3) manifestacija u centralnom nervnom sistemu. Nivo β-glukozocerebrozidaze u leukocitima i vrednost hitotriozidaze u serumu određuju se radi postavljanja definitivne dijagnoze Gošeove bolesti. Nagomilavanje glukocerebrozida izaziva komplikacije u većem broju organa (anemiju, trombocitopeniju, hepatomegaliju, splenomegaliju, skeletne i neurološke promene). Za lečenje Gošeove bolesti od 1991. godine koristi se enzimska supstituciona terapija. Cilj ovog rada bio je da predstavi rezultate lečenja pacijenata sa Gošeovom bolesti tipa 1 na Klinici za hematologiju, alergologiju i kliničku imunologiju Univerzitetskog kliničkog centra Niš primenom taligluceraze alfa kao enzimske supstitucione terapije. Od januara 2016. godine do januara 2025. godine primenom taligluceraze alfa lečeno je pet pacijenata sa Gošeovom bolešču tipa 1. Kod ovih pacijenata nije bilo odgovora na prethodnu terapiju ili je pak donacija leka bila obustavljena. Svi ovi pacijenti dobro su reagovali na terapiju i nije bilo neželjenih efekata. Zapaženo je da primena taligluceraze alfa dovodi do značajnog smanjenja anemije, trombocitopenije i organomegalije, kao i do poboljšanja statusa kostiju.
Reference
Aerts JM, Hollak CE, van Breemen M, Maas M, Groener JE, Boot RG. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr Suppl 2005;94(447):43-6. [CrossRef] [PubMed]
Barak V, Acker M, Nisman B, Kalickman I, Abrahamov A, Zimran A, et al. Cytokines in Gaucher's disease. Eur Cytokine Netw 1999;10(2):205-10.
Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005;35(3):355-64. [CrossRef] [PubMed]
Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. Mol Genet Metab 2006;88(3): 208-15. [CrossRef] [PubMed]
Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med 2006; 57:283-96. [CrossRef] [PubMed]
Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. Arch Intern Med 2000; 160(18):2835-2843. [CrossRef] [PubMed]
Cox TM. Biomarkers in lysosomal storage diseases: a review. Acta Paediatr Suppl 2005;94(447):39-42. [CrossRef] [PubMed]
Deegan PB, Moran MT, McFarlane I, Schofield JP, Boot RG, Aerts JM, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005; 35:259-67. [CrossRef] [PubMed]
Dokić M. Morbus Gaucher- a report of two cases. Vojnosanit Pregl 2006 ;63(12):1039-44. [CrossRef] [PubMed]
Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice and prospects. Annu Rev Genomics Hum Genet 2003; 4:403-36. [CrossRef] [PubMed]
Hollak CE. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. Core Evid 2012;7:15-20. [CrossRef] [PubMed]
Korolenko TA, Zhanaeva SY, Falameeva OV, Kaledin VI, Filyushina EE, Buzueva II, et al. Chitotriosidase as a marker of macrophage stimulation. Bull Exp Biol Med 2000;130: 948-50. [CrossRef] [PubMed]
Maas M, Poll LW, Terk MR. Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol 2002; 75(suppl 1): A13-A24. [CrossRef] [PubMed]
Manolagas SC. The role of IL-6-type cytokines and their receptors in bone. Ann NY Acad Sci 1998;840:194-204. [CrossRef] [PubMed]
Mrsić M. [Diagnosis and treatment of Gaucher disease in Croatia]. Lijec Vjesn. 2007 May;129 Suppl 3:38-42.
Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017;22(2):755–73. [CrossRef] [PubMed]
Pandey MK, Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Rev Oncog 2013;18(3):197-220. [CrossRef] [PubMed]
Pastores GM, Shankar SP, Petakov M, Giraldo P, Rosenbaum H, Amato DJ, et al. Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. Am J Hematol 2016 Jul;91(7):661-5. [CrossRef] [PubMed]
Poll IW, Maas M, Terk MR, Roca-Espiau M, Bembi B, Ciana G, et al. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol 2002;75 Suppl 1:A25-36. [CrossRef] [PubMed]
Redzić A, Begić F. [Type I Gaucher's disease- a rare genetic metabolic disease]. Med Arh 2003; 57(3):173-6.
Revel-Vilk S, Mansfield R, Feder-Krengel N, Machtiger-Azoulay N, Kuter D, Szer J, et al. Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study. J Clin Med 2023;12(18):5913. [CrossRef] [PubMed]
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev 2015 Mar 27;2015(3): CD010324. [CrossRef] [PubMed]
Stowens DW, Teitelbaum SI, Kahn AJ, Barranger JA. Skeletal complications of Gaucher disease. Medicine (Baltimore) 1985; 64:310-22. [CrossRef] [PubMed]
Suvajdžić-Vuković N. Gošeova bolest tipa 1- Klinička slika, hematološki aspekti i supstituciona terapija. Bil Hematol 2004; 32:165-8.
Van Rossum A, Holsopple M. Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options. Hosp Pharm 2016;51(7):553-63. [CrossRef] [PubMed]
Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspects of Gaucher disease: a review. Br J Radiol 2002;75 Suppl 1: A2-12. [CrossRef] [PubMed]
Zhao H, Grabowski GA. Gaucher disease: Perspectives on a prototype lyposomal disease. Cell Mol Life Sci 2002; 59(4):694-707. [CrossRef] [PubMed]
Zimran A, Brill-Almon E, Chertkoff R, Petakov M, Blanco-Favela F, Muñoz ET, et al. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood 2011;118(22):5767-73. [CrossRef] [PubMed]
Zimran A, Durán G, Mehta A, Giraldo P, Rosenbaum H, Giona F, et al. Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease. Am J Hematol 2016;91(7):656-60. [CrossRef] [PubMed]
Zimran A, Wajnrajch M, Hernandez B, Pastores GM. Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease. Orphanet J Rare Dis 2018;13(1):36. [CrossRef] [PubMed]
Zimran A. How I treat Gaucher disease. Blood 2011; 118(6):1463-71. [CrossRef] [PubMed]
