ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v17i4.2159ppharm-1883Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSВедение детей с гликогеновой болезнью (нозологические формы с поражением печени). Современные клинические рекомендацииManagement of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelineshttps://orcid.org/0000-0003-3987-8112БарановА. А.BaranovAlexander A.https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва; Белгород

Moscow; Belgorod

https://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.https://orcid.org/0000-0001-6381-0367ГундобинаО. С.GundobinaOlga S.

Гундобина Ольга Станиславовна, кандидат медицинских наук, ведущий научный сотрудник, врач-гастроэнтеролог НИИ педиатрии и охраны здоровья детей ЦКБ РАН Министерства науки и высшего образования РФ

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olgound@yandex.ruhttps://orcid.org/0000-0001-7398-0562ВишневаЕ. А.VishnevaElena A.https://orcid.org/0000-0002-2395-1322МаргиеваТ. В.MargievaTea V.https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.https://orcid.org/0000-0002-3678-7939СелимзяноваЛ. Р.SelimzyanovaLiliya R.НИИ педиатрии и охраны здоровья детей ЦКБ РАН; Первый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский университет)РоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»; Sechenov First Moscow State Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАН; Российский национальный исследовательский медицинский университет им. Н.И. Пирогова; Белгородский государственный национальный исследовательский университетРоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»; Pirogov Russian National Research Medical University; Belgorod State National Research UniversityRussian FederationНациональный медицинский исследовательский Центр Здоровья ДетейРоссияNational Medical Research Center of Children’s HealthRussian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАНРоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»Russian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАН; Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАН; Первый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский университет); Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in «Central Clinical Hospital of the Russian Academy of Sciences»; Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical UniversityRussian Federation202017092020174303317Copyright © Баранов А.А., Намазова-Баранова Л.С., Сурков А.Н., Гундобина О.С., Вишнева Е.А., Маргиева Т.В., Вашакмадзе Н.Д., Селимзянова Л.Р., 20202020Баранов А.А., Намазова-Баранова Л.С., Сурков А.Н., Гундобина О.С., Вишнева Е.А., Маргиева Т.В., Вашакмадзе Н.Д., Селимзянова Л.Р.Baranov A.A., Namazova-Baranova L.S., Surkov A.N., Gundobina O.S., Vishneva E.A., Margieva T.V., Vashakmadze N.D., Selimzyanova L.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/1883

Гликогеновая болезнь относится к наследственной патологии углеводного обмена, причиной которой являются мутации различных генов, кодирующих ферменты, ответственные за синтез и распад гликогена. Вследствие энзимных дефектов происходит избыточное отложение гликогена в клетках различных тканей, главным образом в печени и мышцах. Авторами представлены современные эпидемиологические данные и особенности этиопатогенеза гликогеновой болезни, даны клинические характеристики различных типов данной нозологии. В соответствии с разработанными клиническими рекомендациями приведены данные по лабораторно-инструментальным и морфологическим признакам гликогеновой болезни у детей, а также сведения о методах лечения гликогеновой болезни. Ввиду многообразия клинических форм гликогенозов в статье представлена актуальная информация по тем типам патологии, которые протекают с преимущественным поражением печени.

Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in liver and muscles) occurs due to enzyme defects. The authors present recent epidemiological data and features of glycogen storage disease etiology and pathogenesis. Clinical characteristics of different types of this disease are also presented. The data on laboratory-instrumental and morphological signs of glycogen storage disease in children, as well as data on its treatment methods is provided in accordance with the developed clinical guidelines. The article provides relevant information on disease types with predominant liver involvement, besides the variety of clinical forms of glycogenosis.

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The authors declare that there are no conflicts of interest present.