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Skeletal system involvement in patients with mucopolysaccharidosis type I

https://doi.org/10.21508/1027-4065-2016-61-4-114-120

Abstract

Joint pathology without signs of inflammation must always arouse suspicion of lysosomal storage diseases, mucopolysaccharidosis (MPS) in particular. It is these orthopedic diseases in mild MPS type I, which are an early sign of the disease; moreover, somatic disorders may be absent or present slightly. Joint contractures are currently chosen as the starting point of an algorithm, a developed diagnostic algorithm for the examination of patients with MPS type I, which is also applicable to the early diagnosis of all forms of mild MPS.

About the Authors

N. D. Vashakmadze
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


L. S. Namazova-Baranova
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


A. K. Gevorkyan
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


L. M. Kuzenkova
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


T. V. Podkletnova
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


M. A. Babaikina
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


A. V. Anikin
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


G. V. Kuznetsova
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


L. A. Osipova
Children’s Health Research Center, Ministry of Health of Russia, Moscow; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow
Russian Federation


References

1. Neufeld E. F., Muenzer J. The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. C. Scriver et al. (eds). New York: McGraw Hill, 2001; 3421–3452.

2. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004; 144: S27–34.

3. Харрисон Т. Р. Внутренние болезни в 10 книгах. Кн. 8. Лизосомные болезни накопления: 250–273 (Harrison T. R. Internal medicine 10 books, b. 8. Lysosomal storage disease accumulation: 250–273.)

4. White K. K. Orthopaedic aspects of mucopolysaccharidoses. Rheumatol 2011; 50: Suppl 5: 26–33.

5. Piraud M., Boyer S., Mathieu M., Maire I. Diagnosis of mucopolysaccharidosesin a clinically selected population by urinary glycosaminoglycananalysis: a study of 2,000 urine samples. Clin Chim Acta 1993; 221: 171–181.

6. Vijay S., Wraith J. E. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 2005; 94: 872–877.

7. Pastores G. M., Arn P., Beck M. et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007; 91: 37–47.

8. Bodamer O. A. Clinical characteristics of MPS I Regystry. Amer Soc Hum Genet. San Diego: California, 2007; http://www.ashg.org/genetics/ashg07s/index.shtml

9. Field R. E., Buchanan J. A., Copplemans M. G. et al. Bone-marrow transplantation in Hurler’s syndrome. Effect on skeletal development. J Bone Joint Surg Br 1994; 76: 975–981.

10. Breider M. A., Shull R. M., Constantopoulos G. Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Pathol 1989; 134: 677–692.

11. Russell C., Hendson G., Jevon G. et al. Murine MPS I: insights into the pathogenesis of Hurler syndrome. Clin Genet 1998; 53: 349–361.

12. Chen S. J., Li Y. W., Wang T. R. et al. Bony changes in common mucopolysaccharidoses. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996; 37: 178–184.

13. Polgreen L. E., Miller B. S. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010; 3: 25–38.

14. Simonaro C. M., D’Angelo M., Haskins M. E. et al. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res 2005; 57: 5: Pt 1: 701–707.

15. White K., Kim T., Neufeld J. A. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med 2010; 3: 1: 57–62.

16. Бучинская Н. В., Костик М. М., Чикова И. А. и др. Скелетные проявления при мукополисахаридозах разных типов. Гении Ортопедии. 2014; 2: 81–90. (Buchinskaya N. V., Kostik M. M., Chikova I. A. et. al. Skeletal manifestations in the mucopolysaccharidoses of various types. Genius Of Orthopedics. 2014; 2: 81–90.)

17. White K. K. Orthopaedic aspects of mucopolysaccharidoses. Rhematol 2011; 50: Suppl 5: 26–33.

18. Tandon V., Williamson J. B., Cowie R. A. et al. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br 1996; 78: 938–944.

19. Weisstein J. S., Delgado E., Steinbach L. S. et al. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004; 24: 97–101.

20. Wraith J. E., Clarke L. A., Beck M. et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, doubleblinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144: 581– 588.

21. White K. K., Harmatz P. Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med 2010; 3: 1: 47–56.

22. Taylor C., Brady P., O’Meara A. et al. Mobility in Hurler syndrome. J Pediatr Orthop 2008; 28: 2: 163–168.

23. Атлас редких болезней. Под редакцией А. А. Баранова, Л. С. Намазовой-Барановой. Москва. Педиатръ. (Atlas of rare diseases. Edited by A. A. Baranov, L. S. Namazova- Baranova. Moscow. Pediatr. 2013; 304.)

24. Cimaz R., Coppa G. V., Koné-Paut I. et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol 2009; 7: 18: doi:10.1186/1546– 0096–7–18

25. Manger B. Rheumatological manifestations are key in the early diagnosis of mucopolysaccharidosis type I. Europ Musculoskeletal Rev 2008; 1–6.

26. Sifuentes M., Doroshow R., Hoft R. et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90: 171–180.

27. Clarke L. A., Wraith J. E., Beck M. et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009; 123: 229–240.

28. Kakkis E. D., Muenzer J., Tiller G. E. et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344: 182–188.

29. Баранов А. А, Намазова-Баранова Л. С., Геворкян А. К. и др. Опыт внедрения в российскую педиатрическую практику новой технологии лечения детей, страдающих мукополисахаридозами. Педиатр фармакол 2011; 5: 6–12. (Baranov A. A., Namazova- Baranova L. S., Gevorkyan A. K. et al. The Experience of implementation of new techniques in the treatment of children suffering from mucopolysaccharidoses in the Russian pediatric practice. Pediat pharmacolog 201; 5: 6–12.)


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For citations:


Vashakmadze N.D., Namazova-Baranova L.S., Gevorkyan A.K., Kuzenkova L.M., Podkletnova T.V., Babaikina M.A., Anikin A.V., Kuznetsova G.V., Osipova L.A. Skeletal system involvement in patients with mucopolysaccharidosis type I. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2016;61(4):114-120. (In Russ.) https://doi.org/10.21508/1027-4065-2016-61-4-114-120

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ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)