Bolezn' Pompe - novyy vzglyad na problemu
- Autores: Basargina E.N1, Arkhipova E.N1, Ermolenko V.S1
-
Afiliações:
- Edição: Nº 1 (2014)
- Páginas: 29-32
- Seção: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/286529
- ID: 286529
Citar
Texto integral
Acesso aberto
Acesso está concedido
Acesso é pago ou somente para assinantes
Resumo
The present review is dedicated to the prevalence and treatment strategies for severe hereditary disease characterized by deficiency of the lysosomal acid alpha-glucosidase - Pompe disease. The forms of the disease, diagnostic tactics and approach to differential diagnosis are presented. Method of enzyme-replacement therapy aimed directly at correcting the primary defect of metabolism is discussed as the only specific treatment of this disease. The authors draw attention to the need for the earliest possible start of enzyme replacement therapy for best results.
Palavras-chave
Texto integral
Sobre autores
E. Basargina
Email: basargina@nczd.ru
E. Arkhipova
Email: arkhipovae@nczd.ru
V. Ermolenko
Bibliografia
- Martina Baethmann, Volker Straub, Arnold J.J. Reuser Pompe Disease UNI-MED Science, 1st edition. 2008.
- Hirshhorn R., Reuser A. Glycogen storage dis ease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C.R., Beaudet A.L., Sly W., et al, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill, 2001: 338-420.
- Umapathysivam К., Hopwood J.J., Meikle P.J. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin. Chem. 2001; 47: 1378-83.
- Kishnani P.S., Hwu W.L., Mandel H., Nicolino M., et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J. Pediatr. 2006; 148: 671-76.
- Amalfitano A., Bengur A.R., Morse R.P., et al. Recombinant human acid-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet. Med. 2001; 3: 132-38.
- Angelini C., Semplicini C. Enzyme Replacement Therapy for Pompe Disease. Curr. Neurol. Neurosci. Rep. 2012; 12: 70-5.
- Nicolino M., Byrne B., Wraith J.E., et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet. Med. 2009; 11(3): 210-19.
- Kishnani P.S., et al. Recombinant human acid а-glucosidase: Major clinical benefits in infantile-onset Pompe disease. Neurology. 2007; 68(2): 99-109.
- Басаргина Е.Н., Жарова О.П., Архипова Е.Н., Сугак А.Б., Талалаев А.Г., Журкова Н.В. Опыт применения ферментозаместительной терапии рекомбинантной человеческой кислой альфа-глюкозидазой у детей с инфантильной формой болезни Помпе. Российский вестник перинатологии и педиатрии. 2013; 6: 58-66.
Arquivos suplementares
