ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v21i3.2765ppharm-2467Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSСовременные клинические рекомендации по ведению пациентов с гликогеновой болезньюCurrent Clinical Guidelines for the Management of Patients with Glycogen Storage DiseaseАверкинаН. А.AverkinaNatalia A.

Москва

Moscow

БагаеваМ. Э.BagaevaMadlena E.

Москва

Moscow

https://orcid.org/0000-0003-3987-8112БарановА. А.BaranovAleksander A.

Москва

Moscow

https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

https://orcid.org/0000-0001-7398-0562ВишневаЕ. А.VishnevaElena A.

Москва

Moscow

https://orcid.org/0000-0001-6381-0367ГундобинаО. С.GundobinaOlga S.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNataliya V.

Москва

Moscow

https://orcid.org/0000-0002-8936-3590КайтуковаЕ. В.KaitukovaElena V.

Москва

Moscow

https://orcid.org/0000-0001-6000-5418КомароваЕ. В.KomarovaElena V.

Москва

Moscow

https://orcid.org/0000-0002-2395-1322МаргиеваТ. В.MargievaTea V.

Москва

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Намазова-Баранова Лейла Сеймуровна - доктор медицинских наук, профессор, академик РАН, заведующая кафедрой факультетской педиатрии педиатрического факультета ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, руководитель НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского», президент Союза педиатров России.

119333, Москва, ул. Фотиевой, д. 10, тел.: +7 (499) 400-47-33

Moscow

lsnamazova@yandex.ruНовиковаВ. П.NovikovaValeria P.

Санкт-Петербург

Saint-Petersburg

https://orcid.org/0000-0002-8520-2378ПетряйкинаЕ. Е.PetryaykinaElena E.

Москва

Moscow

https://orcid.org/0000-0002-6164-0074ПлатоноваМ. М.PlatonovaMariya M.

Москва

Moscow

ПотаповА. С.PotapovAleksander S.

Москва

Moscow

https://orcid.org/0000-0002-3720-8046СмирноваО. Я.SmirnovaOlga Ya.

Москва

Moscow

СтроковаТ. В.StrokovaTatiana V.

Москва

Moscow

https://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.

Москва

Moscow

ТаранН. Н.TaranNataliya N.

Москва

Moscow

https://orcid.org/0000-0003-0797-5612ФедосеенкоМ. В.FedoseenkoMarina V.

Москва

Moscow

СемёноваН. А.SemenovaNataliya A.

Москва

Moscow

АнисимоваИ. В.AnisimovaInga V.

Москва

Moscow

РепинаС. А.RepinaSvetlana A.

Москва

Moscow

СубботинД. М.SubbotinDmitriy M.

Москва

Moscow

https://orcid.org/0009-0000-9224-4181СвиридоваВ. В.SviridovaValeria V.

Москва

Moscow

https://orcid.org/0000-0001-7308-7280ХавкинА. И.HavkinAnatoliy I.

Москва

Moscow

https://orcid.org/0000-0003-3364-610XЯблоковаЕ. А.YablokovaEkaterina A.

Москва

Moscow

https://orcid.org/0000-0002-5413-9599ВолынецГ. В.VolynetsGalina V.

Москва

Moscow

https://orcid.org/0000-0001-9137-9535СадовниковаИ. В.SadovnikovaIrina V.

Нижний Новгород

Nizhny Novgorog

https://orcid.org/0000-0003-1149-4061ТумановаЕ. Л.TumanovaElena L.

Москва

Moscow

ЦНИИОИЗРоссияRussian Research Institute of HealthRussian FederationФИЦ питания и биотехнологииРоссияFederal Research Centre of Nutrition and BiotechnologyRussian FederationНИИ педиатрии и охраны здоровья НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical AcademyRussian FederationНИИ педиатрии и охраны здоровья НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияI.M. Sechenov Moscow Medical AcademyRussian FederationСПбГПМУРоссияSaint-Petersburg State Pediatric Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РДКБ РНИМУ им. Н.И. Пирогова; РУДНРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University; Peoples’ Friendship University of RussiaRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский Университет); Научный центр здоровья детейРоссияI.M. Sechenov Moscow Medical Academy; Scientific Center of Children’s HealthRussian FederationМГНЦ им. акад. Н.П. БочковаРоссияN.P. Bochkov Research Centre for Medical GeneticsRussian FederationНИКИ детстваРоссияResearch Clinical Institute of ChildhoodRussian FederationНИКИ педиатрии и детской хирургии им. акад. Ю.Е. ВельтищеваРоссияYu.E. Veltishchev Research Clinical Institute of PediatricsRussian FederationПИМУРоссияPrivolzhsky Research Medical UniversityRussian FederationРНИМУ им. Н.И. ПироговаРоссияPirogov Russian National Research Medical UniversityRussian Federation202404072024213263288Copyright © Аверкина Н.А., Багаева М.Э., Баранов А.А., Вашакмадзе Н.Д., Вишнева Е.А., Гундобина О.С., Журкова Н.В., Кайтукова Е.В., Комарова Е.В., Маргиева Т.В., Намазова-Баранова Л.С., Новикова В.П., Петряйкина Е.Е., Платонова М.М., Потапов А.С., Смирнова О.Я., Строкова Т.В., Сурков А.Н., Таран Н.Н., Федосеенко М.В., Семёнова Н.А., Анисимова И.В., Репина С.А., Субботин Д.М., Свиридова В.В., Хавкин А.И., Яблокова Е.А., Волынец Г.В., Садовникова И.В., Туманова Е.Л., 20242024Аверкина Н.А., Багаева М.Э., Баранов А.А., Вашакмадзе Н.Д., Вишнева Е.А., Гундобина О.С., Журкова Н.В., Кайтукова Е.В., Комарова Е.В., Маргиева Т.В., Намазова-Баранова Л.С., Новикова В.П., Петряйкина Е.Е., Платонова М.М., Потапов А.С., Смирнова О.Я., Строкова Т.В., Сурков А.Н., Таран Н.Н., Федосеенко М.В., Семёнова Н.А., Анисимова И.В., Репина С.А., Субботин Д.М., Свиридова В.В., Хавкин А.И., Яблокова Е.А., Волынец Г.В., Садовникова И.В., Туманова Е.Л.Averkina N.A., Bagaeva M.E., Baranov A.A., Vashakmadze N.D., Vishneva E.A., Gundobina O.S., Zhurkova N.V., Kaitukova E.V., Komarova E.V., Margieva T.V., Namazova-Baranova L.S., Novikova V.P., Petryaykina E.E., Platonova M.M., Potapov A.S., Smirnova O.Y., Strokova T.V., Surkov A.N., Taran N.N., Fedoseenko M.V., Semenova N.A., Anisimova I.V., Repina S.A., Subbotin D.M., Sviridova V.V., Havkin A.I., Yablokova E.A., Volynets G.V., Sadovnikova I.V., Tumanova E.L.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/2467

Авторами представлены современные эпидемиологические данные и особенности этиопатогенеза гликогеновой болезни, даны клинические характеристики различных типов данной нозологии. В соответствии с разработанными клиническими рекомендациями приведены сведения по лабораторно-инструментальным и морфологическим признакам гликогеновой болезни у детей, а также 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 refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen. Due to enzyme defects, excessive glycogen deposition occurs in cells of various tissues, mainly in the liver and muscles. The authors present modern epidemiological data and features of the etiopathogenesis of glycogen storage disease, and give clinical characteristics of various types of this nosology. In accordance with the developed clinical guidelines, information is provided on laboratory, instrumental and morphological signs of glycogen storage disease in children, as well as on methods of treatment of glycogen storage disease. Due to the variety of clinical forms of glycogenosis, the article provides up-to-date information on three types of pathology that occur with predominant liver damage.

нарушения углеводного обменаболезни накопления гликогенагликогенозклинические рекомендациидетиabnormalities in glucose metabolismglycogen-storage diseaseglycogenosisclinical guidelineschildrenОтсутствуетNot specified.ReferencesEllingwood SS, Cheng A. Biochemical and Clinical Aspects of Glycogen Storage Diseases. J Endocrinol. 2018;238(3):131–141. https://doi.org/10.1530/JOE-18-0120Ellingwood SS, Cheng A. Biochemical and Clinical Aspects of Glycogen Storage Diseases. J Endocrinol. 2018;238(3):131–141. https://doi.org/10.1530/JOE-18-0120Lei KJ, Chen YT, Chen H, et al. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995;57(4):766–771.Lei KJ, Chen YT, Chen H, et al. Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. Am J Hum Genet. 1995;57(4):766–771.Chen YT. Glycogen storage diseases. In: The Metabolic Bases of Inherited Disease. 8th edn. 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The authors declare that there are no conflicts of interest present.