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Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma 'Zlatibor'
2017, vol. 22, br. 65, str. 65-70
jezik rada: srpski
vrsta rada: neklasifikovan
doi:10.5937/medgla1765065M

Creative Commons License 4.0
Gaucherova bolest i koštane manifestacije
aKlinički centar Crne Gore, Klinika za internu medicinu, Odeljenje za endokrinologiju, Podgorica, Crna Gora
bUniverzitet u Beogradu, Medicinski fakultet
cKlinički centar Crne Gore, Klinika za hematologiju, Podgorica, Crna Gora
dKlinički centar Crne Gore, Klinika za internu medicinu, Odeljenje za endokrinologiju, Podgorica, Crna Gora + Univerzitet Crne Gore, Medicinski fakultet, Podgorica, Crna Gora

Sažetak

Gaucherova bolest (GB) je redak autozomno recesivni nasledni poremećaj nastao kao defekt u sintezi enzima glukocerebrozidaze (GBA), što uzrokuje manjak ili potpuni nedostatak aktivnosti tog enzima. Glavna karakteristika bolesti je nakupljanje glikosfingolipida glukozilceramida (GL-1) i glikozilsfingozina (LysoGL-1) u lizozomima mononuklearnih fagocita, a mutacije u GBA genu manifestuju se različitom kliničkom prezentacijom. Koštane manifestacije u kliničkoj prezentaciji pacijenata sa GB su česte kod tipa I i III GB, a javljaju se u više oblika kao: deformiteti, koštani infarkt, avaskularna nekroza, osteoskleroza i frakture nastale kao posledica osteopenije i osteoporoze, retko akutni osteomijelitis. Kao glavne terapijske opcije prepoznate su primena enzimske terapije i terapija redukcijom supstrata, a bitno mesto zauzimaju i primena biofosfonata, hormonske supstitucione terapije, raloksifena, kalcitonina, stroncijum-ranelata, paratiroidnog hormona. Ortopedske intervencije takođe imaju svoje mesto u terapiji koštanih manifestacija GB, dok je pokazano da splenektomija ima negativan dugoročni uticaj na koštane manifestacije u GB. Patofiziološki mehanizam nastanka koštanih manifestacija u GB još uvek je nedovoljno razjašnjen, a iste imaju za posledicu smanjenje funkcijske sposobnosti i kvaliteta života pacijenta. Rana dijagnoza koštanih promena u pacijenata sa GB ključ je za dobre terapijske odluke i što raniju primenu istih.

Ključne reči

Gaucherova bolest; glukocerebrozidaza; koštane manifestacije; enzimska terapija

Reference

Abe, M., Hiura, K., Wilde, J., Moriyama, K., Hashimoto, T., Ozaki, S., et al. (2002) Role for macrophage inflammatory protein (MIP)-1a and MIP-1b in the development of osteolytic in multiple myeloma. Blood, 100: 2195-2302
Allen, M.J., Myer, B.J., Khokher, A.M., Rushton, N., Cox, T.M. (1997) Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM, 90(1): 19-25
Andersson, H.C., Charrow, J., Kaplan, P., Mistry, P., Pastores, G.M., Prakesh-Cheng, A., Rosenbloom, B.E., Scott, C.R., Wappner, R.S., Weinreb, N.J. (2005) Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine, 7(2): 105-110
Barak, V., Acker, M., Nisman, B., Kalickman, I., Abrahamov, A., Zimran, A., Yatziv, S. (1999) Cytokines in Gaucher. s disease. Eur Cytokine Netw., 10: 205-210
Beutler, E. (2006) Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatrica, 95(0): 103-109
Charrow, J., Andersson, H.C., Kaplan, P., Kolodny, E.H., Mistry, P., Pastores, G., Rosenbloom, B.E., Scott, C. R., Wappner, R.S., Weinreb, N.J., Zimran, A. (2000) The Gaucher Registry. Archives of Internal Medicine, 160(18): 2835
Dreborg, S., Erikson, A., Hagberg, B. (1980) Gaucher disease: Norrbottnian type. I. General clinical description. Eur J Pediatr, 133(2): 107-18
Gaucher, P. (1882) On primary epithelioma of the spleen: Idiopathic hypertrophy of the spleen without leukemia. Paris, France: Octave Doin, Thesis, Doctor of Medicine
Grabowski, G.A. (2012) Gaucher disease and other storage disorders. Hematol Am Soc Hematol Educ Progr, 2012: 13-8
Hollak, C.E., van Weely, S., van Oers, M.H., Aerts, J.M. (1994) Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher disease. J. Clin. Investig, 93, 1292
Koprivica, V., Stone, D.L., Park, J.K., Callahan, M., Frisch, A., Cohen, I.J., Tayebi, N., Sidransky, E. (2000) Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease. American Journal of Human Genetics, 66(6): 1777-1786
Laks, Y., Well, J. P. (1987) The Varied Clinical and Laboratory Manifestations of Type II Gaucher's Disease. Acta Paediatrica, 76(2): 378-380
Linari, S., Castaman, G. (2015) Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab, 12(2); 157-64
Maas, M., Poll, L.W., Terk, M.R. (2002) Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol, 75 Suppl 1: A13-24
Mikosch, P., Hughes, D. (2010) Eine Übersicht zu Knochenmanifestationen bei Morbus Gaucher. Wiener Medizinische Wochenschrift, 160(23-24): 609-624
Mistry, P.K., Liu, J., Sun, L., Chuang, W., Yuen, T., Yang, R., Lu, P., Zhang, K., Li, J., Keutzer, J., Stachnik, A., Mennone, A., Boyer, J.L., Jain, D., Brady, R.O., New, M.I., Zaidi, M. (2014) Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proceedings of the National Academy of Sciences, 111(13): 4934-4939
Moran, M.T., Schofield, J.P., Hayman, A.R., Shi, G.P., Young, E., Cox, T.M. (2000) Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood, 96: 1969-1978
Pastores, G.M., Wallenstein, S., Desnick, R.J., Luckey, M.M. (1996) Bone density in type 1 Gaucher disease. J Bone Miner Res, 11, 1801-1807
Pastores, G.M., Meere, P.A. (2005) Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Current Opinion in Rheumatology, 17(1): 70-78
Schiffmann, R., Mankin, H., Dambrosia, J.M., Xavier, R.J., Kreps, C., Hill, S.C., Barton, N.W., Rosenthal, D.I. (2002) Decreased Bone Density in Splenectomized Gaucher Patients Receiving Enzyme Replacement Therapy. Blood Cells, Molecules, and Diseases, 28(2): 288-296
Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., Brassier, A., Rose, C., Billette, de V.T., Berger, M. (2017) A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences, 18(2): 441
Tamargo, R.J., Velayati, A., Goldin, E., Sidransky, E. (2012) The role of saposin C in Gaucher disease. Molecular Genetics and Metabolism, 106(3): 257-263
Wenstrup, R.J., Roca-Espiau, M., Weinreb, N.J., Bembi, B. (2002) Skeletal aspects of Gaucher disease: a review. British Journal of Radiology, 75(suppl_1): A2-A12