Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press32610.17650/2222-8721-2019-9-2-43-49CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРLate-onset Pompe disease: preliminary results of enzyme replacement therapyБолезнь Помпе с поздним началом: предварительные результаты ферментозаместительной терапииhttps://orcid.org/0000-0002-0318-3960SmertinaL. P.СмертинаЛ. П.
Russian Federation

1 Lenina St., Surgut 628400, Russia

14 Energetikov St., Surgut 628408, Russia

Россия, 628400 Сургут, ул. Ленина, 1;

Россия, 628408 Сургут, ул. Энергетиков, 14

smertina@yandex.ruAushevaF. I.АушеваФ. И.
Russian Federation

14 Energetikov St., Surgut 628408, Russia

Россия, 628408 Сургут, ул. Энергетиков, 14

GryaznovA. V.ГрязновА. В.
Russian Federation

14 Energetikov St., Surgut 628408, Russia

Россия, 628408 Сургут, ул. Энергетиков, 14

SvetlakovD. A.СветлаковД. А.
Russian Federation

14 Energetikov St., Surgut 628408, Russia

Россия, 628408 Сургут, ул. Энергетиков, 14

KolbasinL. N.КолбасинЛ. Н.
Russian Federation

69 / 1 Lenin St., Surgut 628400; Russia

Россия, 628400 Сургут, ул. Ленина 69 / 1

Surgut State University Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”Сургутский государственный университет Бюджетное учреждение Ханты-Мансийского автономного округа – Югры «Сургутская окружная клиническая больница»Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “Surgut district clinical hospital”Бюджетное учреждение Ханты-Мансийского автономного округа – Югры «Сургутская окружная клиническая больница»Budgetary institution of the Khanty-Mansiysk Autonomous Okrug – Ugra “District Cardiological Dispensary” Center for Diagnostic and Cardiovascular Surgery “Бюджетное учреждение Ханты-Мансийского автономного округа – Югры «Окружной кардиологический диспансер «Центр диагностики и сердечно-сосудистой хирургии»140720199243491407201914072019Copyright ©; 2019, Smertina L.P., Ausheva F.I., Gryaznov A.V., Svetlakov D.A., Kolbasin L.N.Copyright ©; 2019, Смертина Л.П., Аушева Ф.И., Грязнов А.В., Светлаков Д.А., Колбасин Л.Н.2019Smertina L.P., Ausheva F.I., Gryaznov A.V., Svetlakov D.A., Kolbasin L.N.Смертина Л.П., Аушева Ф.И., Грязнов А.В., Светлаков Д.А., Колбасин Л.Н.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/326

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.

Болезнь Помпе – орфанная наследственная болезнь накопления, связанная с дефицитом лизосомного фермента алглюкозидазы альфа. Проявления заболевания связаны с патологическим отложением гликогена в тканях организма в результате мутации гена GAA и последующего снижения активности фермента алглюкозидазы альфа или кислой мальтазы. Разнообразие фенотипических форм и разная степень поражения скелетных и дыхательных мышц, кардиомиоцитов и внутренних органов в значительной степени затрудняет постановку диагноза и начало лечения пациентов с болезнью Помпе. Представлен доказанный клинический случай болезни Помпе с поздним началом с оценкой состояния до лечения и предварительные результаты после 4 курсов ферментозаместительной терапии.

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