A case of Pompe disease in infant
https://doi.org/10.17650/2222-8721-2013-0-4-30-33
Abstract
A case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in Russia, was administered due to
life-threatening indication). Nowadays ERT is the only possible pathogenetic treatment of Pompe disease.
About the Authors
E. F. Sudorgina
Orenburg City Children’s Clinical Hospital
Russian Federation
Russian Federation
S. B. Choloyan
Orenburg City Children’s Clinical Hospital
Russian Federation
Russian Federation
M. V. Sheenkova
Orenburg City Children’s Clinical Hospital
Russian Federation
Russian Federation
L. P. Kolesnikova
Orenburg City Children’s Clinical Hospital
Russian Federation
Russian Federation
References
1. Harrison N. Jones, Carolyn W. Muller, Min Lin et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010;25:277–83.
2. Amy S. Rosenberg, Priya S. Kishnani, Nancy J. Mendelsohn, Yoav H. Messinger. Immune tolerance for lysosomal storage disorders lessons learned from CRIM-negative infantile Pompe disease. CML–Lysosomal Storagt Diseases 2013;11 (1);1–6.
3. Deduve C/ From cytases to lysosomes. Fed Proc 1964; 2697–716.
4. Яхно Н. Н. Болезни нервной системы: Рук-во для врачей. М.: Медицина, 2005. Т. 1. С. 601–602.
5. Сухоруков В. С., Харламов Д. А., Перевезенцев О. А, Мамедов И. С. Диагностика болезни Помпе. Рос вестн перинатол и педиатр 2010; (6):23–34.
6. Шатохина Н. С., Бойков С. А., Шадрина Э. М., Балянова Е. Г. Болезнь Помпе: Проблемы диагностики у детей первого года жизни. Кубанский науч мед вестн 2012; (6):32–4.
7. Захарова Е. Ю. Лечение лизосомальных болезней накопления. Вопр гематол/онкол и иммунопатол в педиатр 2008;7 (4):27–32.
Review
For citations:
Sudorgina E.F., Choloyan S.B., Sheenkova M.V., Kolesnikova L.P. A case of Pompe disease in infant. Neuromuscular Diseases. 2013;(4):30-33. (In Russ.) https://doi.org/10.17650/2222-8721-2013-0-4-30-33
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