A case of Pompe disease in infant

E. F. Sudorgina; Судоргина Е. Ф.; S. B. Choloyan; Чолоян С. Б.; M. V. Sheenkova; Шеенкова М. В.; L. P. Kolesnikova; Колесникова Л. П.

doi:10.17650/2222-8721-2013-0-4-30-33

A case of Pompe disease in infant

Authors: Sudorgina E.F.¹, Choloyan S.B.¹, Sheenkova M.V.¹, Kolesnikova L.P.¹
Affiliations:
1. Orenburg City Children’s Clinical Hospital
Issue: Vol 3, No 4 (2013)
Pages: 30-33
Section: CLINICAL DISCUSSION
Published: 20.12.2013
URL: https://nmb.abvpress.ru/jour/article/view/65
DOI: https://doi.org/10.17650/2222-8721-2013-0-4-30-33
ID: 65

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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.