Алгоритъм за диагностика и лечение на болест на Гоше
Abstract
Болестта на Гоше е рядка генетична болест, част от т.н. болести на натрупването, при които липсата или намалената активност на ензима глюкоцереброзидаза, води до натрупването на неразграден субстрат в лизозомите на клетките. Диагнозата на болестта се поставя на базата на редица клинични, лабораторни, генетични и образни изследвания. Златен стандарт в лечението на болестта на Гоше е ензим-заместващата терапия с Imiglucerase. Нова възможност за лечение представлява субстрат-редуциращата терапия с Eliglustat. Тъй като болестта на Гоше засяга различни органи и системи е необходимо пациентите да бъдат проследявани периодично от мултидисциплинарен екип от специалисти, с опит в наблюдението и терапията на заболяването.
References
M.J. Abramowicz, D. Cassiman, P. Cras, et al. Gaucher’s Disease Guidelines for diagnosis, treatment and monitoring, The Belgian Working Group on Gaucher disease, June 2004.
Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res. 2012 Aug;27(8):1839-48.
Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004 Oct;41(4 Suppl 5):4-14.
Mistry PK, Cappellini MD, Lukina E et al. A reappraisal of Gaucher disease—Diagnosis and disease management algorithms. Am J Hematol. 2011 January ; 86(1): 110–115.
Andersson HC, Charrow J, Kaplan P et al. Individualization of long-term enzyme replacement therapy for Gaucher disease, Genetics in Medicine, Feb 2005, Vol. 7 No. 2: 105-110.
Summary of Product Characteristics Cerezyme (2012).
Weinreb N, 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) 36:543–553.
Biegstraaten M, Cox TM, Belmatoug N, et al. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease; Blood Cells, Molecules and Diseases 68 (2018) 203–208.
Cerdelga. SPC/11/10/2017.
Mistry et al. Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1.The ENGAGE Randomized Clinical Trial/ JAMA. 2015;313(7):695-706.
E. Lukina et al., Eliglustat, an investigational oral therapy for Gaucher disease type 1: phase 2 trial results after 4 years of treatment, Blood Cells Mol. Dis. 53 (4) (2014) 274–276.
Ravi S. Kamath & Elena Lukina & Nora Watman Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat, Skeletal Radiol 43 (10) (2014) 1353–1360.
P.K. Mistry et al., Outcomes after 18 months of eliglustat therapy in treatment-naive adults with Gaucher disease type 1: The phase 3 ENGAGE trial, Am. J. Hematol. 92 (11) (2017) 1170–1176.
T.M. Cox, et al., Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy, Blood 129 (17) (2017) 275–2383.
N. Belmatoug et al. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. European Journal of Internal Medicine 37 (2017) 25–32.
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