Ферментозаместительная терапия у детей с мукополисахаридозами в россии: особенности организации, внедрение, перспективы


Л.С. Намазова-Баранова, А.К. Геворкян, Л.М. Кузенкова, Г.А. Каркашадзе, Н.Д. Вашакмадзе, Т.В. Подклетнова

В статье обобщен опыт внедрения ферментозаместительной терапии (ФЗТ) в Научном центре здоровья детей РАМН, представлена модель организации многоэтапной комплексной помощи детям с мукополисахаридозами (МПС).

Литература


1. Козлова С.И., Демикова Н.С. Наследственные синдромы и медико-генетическое консультирование. М., 2007. С. 169–70.


2. Коннет Л. Джонс. Наследственные синдромы по Дэвиду Смиту. М., 2011.


3. Hopkin RJ, Grabowski GA. Lysosomal storage diseases. In: Fauci A, Kasper D, Braunwald E, et al, eds. Harrison‘s Principles of Internal Medicine. 17th ed. New York, NY: McGraw Hill, 2005:2452–56.


4. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, ed. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill, 2001:3421–52.


5. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R, et al. Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2001;58:127–38.


6. Peters C, Shapiro EG, Krivit W. Hurler syndrome: past, present, and future. J Pediatr 1998;133(1):7–9.


7. Marucha J, Jurecka A, Syczewska M, et al. Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatrica 2012; 101:183–8.


8. Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995;72(3):263–67.


9. Valayannopoulos V, Nicely H, Harmatz P, et al. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010;5:5.


10. Muenzer J, Beck M, Eng СM, et al. Multidisciplinary Management of Hunter Syndrome. Pediatrics December 2009;124:е1228–39.


11. Muenzer J, Wraith J E, Clarke LA. International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I . Mucopolysaccharidosis I: Management and Treatment Guidelines. Pediatrics January 2009;123:19–29.


12. Thomas JA, Beck M, Clarke JT, et al. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis 2010;33:421–27.


13. Karageorgos L, Brooks D, Harmatz P, et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. Mol Genet Metab 2007;90;164–70.


14. Wraith JE, Beck M, Lane R, et al. Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase). Pediatrics 2007;120:e37–46. 15. Burton BK, et al. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. European journal of pediatrics 2012;171(4): 631–39. (Epub. 2012 Mar 01).


16. Giugliani R, Harmatz P, Wraith JE. Management Guidelines for Mucopolysaccharidosis VI. Pediatrics 2007;120(2):405–18.


17. Holt JB, Poe MD, Escolar ML. Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II. Pediatrics 2011;127(5):e1258–65.


18. Clarke LA, Wraith JE, Beck M, et al. Longterm Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I. Pediatrics 2009; 123:1 229–40.


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