Late-onset Pompe disease: preliminary results of enzyme replacement therapy
https://doi.org/10.17650/2222-8721-2019-9-2-43-49
Abstract
Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results.
About the Authors
L. P. Smertina
Surgut State University
Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”
Russian Federation
Russian Federation
1 Lenina St., Surgut 628400, Russia
14 Energetikov St., Surgut 628408, Russia
F. I. Ausheva
Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”
Russian Federation
14 Energetikov St., Surgut 628408, Russia
Russian Federation
14 Energetikov St., Surgut 628408, Russia
A. V. Gryaznov
Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”
Russian Federation
14 Energetikov St., Surgut 628408, Russia
Russian Federation
14 Energetikov St., Surgut 628408, Russia
D. A. Svetlakov
Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”
Russian Federation
14 Energetikov St., Surgut 628408, Russia
Russian Federation
14 Energetikov St., Surgut 628408, Russia
L. N. Kolbasin
Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “District Cardiological Dispensary” Center for Diagnostic and Cardiovascular Surgery “
Russian Federation
69 / 1 Lenin St., Surgut 628400; Russia
Russian Federation
69 / 1 Lenin St., Surgut 628400; Russia
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Review
For citations:
Smertina L.P., Ausheva F.I., Gryaznov A.V., Svetlakov D.A., Kolbasin L.N. Late-onset Pompe disease: preliminary results of enzyme replacement therapy. Neuromuscular Diseases. 2019;9(2):43-49. (In Russ.) https://doi.org/10.17650/2222-8721-2019-9-2-43-49
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