Нервно-мышечные Б О Л Е З Н И Neuromuscular DISEASES Клинические рекомендации по оказанию медицинской помощи пациентам с болезнью Помпе Авторы: С. С. Никитин, д.м.н., Региональная общественная организация «Общество специалистов по нервно-мышечным болезням» С. И. Куцев, д.м.н., ФГБНУ «Медико-генетический научный центр» Е. Н. Басаргина, д.м.н., ФГАУ «Научный центр здоровья детей» Минздрава России, Научно-исследовательский институт педиатрии С. В. Михайлова, д.м.н., ФГБУ «Российская детская клиническая больница» Минздрава России Е. Ю. Захарова, д.м.н., ФГБНУ «Медико-генетический научный центр» В. И. Ларионова, д.м.н., ГБОУ ВПО «Северо-Западный государственный медицинский университет им.И. И. Мечникова» Минздрава России С. И

Many orphan diseases in children require life-long and regular intravenous enzyme replacement therapy. The article describes the first Russian practice of implanting venous port systems in 12 patients with type I and II mucopolysaccharidosis and Pompe disease (6 months to 17 years old) to create long-term venous access. Currently, implantable venous port systems are used in 9 (75%) of 12 patients. 4 cases of thrombosis are observed in 3 patients. All of them have been successfully treated. 1 patient had a rotation of the port camera with a membrane facing downwards due to violation of an implantation technique. The camera was adjusted during the second operation.

Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological process. The only specific method of treating Pompe disease is enzyme replacement therapy (intravenous administration of recombinant human acid glucosidase), the effectiveness whereof depends on the time the therapy started. Since such a therapy was introduced into practice, Pompe disease mortality decreased by 79%. 6 children with infantile Pompe disease were observed and treated at the cardiovascular care unit of the Scientific Center of Children’s Health in 2011-2014. The article presents a clinical case demonstrating capabilities of diagnosing infantile Pompe disease in Russia and effective application of alglucosidase alfa in 4-month-old child.

Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies. Dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular and intraventricular conduction abnormalities, and sudden cardiac death are well known pathological findings in Duchenne muscular dystrophies, myotonic dystrophy type I and 2, Emery-Dreifuss muscular dystrophies and different types of limb-girdle muscular dystrophies and other disorders. Detection of cardiac pathology in patients with different muscular dystrophies is possible with ECG, echocardiography and cardiovascular magnetic resonance imaging, which are recommended for screening and early cardioprotective treatment.

Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological process. The only specific method of treating Pompe disease is enzyme replacement therapy (intravenous administration of recombinant human acid glucosidase), the effectiveness whereof depends on the time the therapy started. Since such a therapy was introduced into practice, Pompe disease mortality decreased by 79%. 6 children with infantile Pompe disease were observed and treated at the cardiovascular care unit of the Scientific Center of Children’s Health in 2011‑2014. The article presents a clinical case demonstrating capabilities of diagnosing infantile Pompe disease in Russia and effective application of alglucosidase alfa in 4-month-old child. Keywords: Pompe disease, storage disease, infantile disease, enzyme replacement therapy.

The article provides an analysis of capabilities of magnetic resonance imaging with delayed contrast enhancement in diagnosing fibrotic alterations of varying severity. A hyperintense signal in the setting of myocardial delayed contrast enhancement programs indicates alterations of myocardial structure. Localization, severity and hyperintense signal size facilitate correct diagnosis and prognosis of complications development.

Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological process. The only specific method of treating Pompe disease is enzyme replacement therapy (intravenous administration of recombinant human acid glucosidase), the effectiveness whereof depends on the time the therapy started. Since such a therapy was introduced into practice, Pompe disease mortality decreased by 79%. 6 children with infantile Pompe disease were observed and treated at the cardiovascular care unit of the Scientific Center of Children’s Health in 2011‑2014. The article presents a clinical case demonstrating capabilities of diagnosing infantile Pompe disease in Russia and effective application of alglucosidase alfa in 4-month-old child.

сердечной недостаточности у детей. В статье представлены собственные результаты изучения роли NT-proBNP в диагностике некомпактного миокарда. Выявлено, что содержание NT-proBNP в сыворотке крови детей с результаты могут быть полезны врачу в клинической некомпактный миокард, NT-proBNP, сердечная недостаточность, диагностика, дети. фармакология. 9 65–69) Non-compacted myocardium is a rare congenital cardiomyopathy. Due to the lack of uniform criteria, diagnostics of this condition is complicated presently, which results in over-diagnosing. N-terminal pro-brain natriuretic peptide (NT-proBNP) is a marker of chronic cardiac insufficiency (CCI) in children. The results of the study of NT-proBNP in non-compacted myocardium diagnostics are represented in this article. It was established, that serum NT-proBNP levels were higher in children with non-compacted myocardium than in children with CCI and without this disorder (р < 0,01). The received data can be useful in clinical practice.