Педиатрическая фармакология (Jul 2024)
Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease
- Natalia A. Averkina,
- Madlena E. Bagaeva,
- Aleksander A. Baranov,
- Nato D. Vashakmadze,
- Elena A. Vishneva,
- Olga S. Gundobina,
- Nataliya V. Zhurkova,
- Elena V. Kaitukova,
- Elena V. Komarova,
- Tea V. Margieva,
- Leyla S. Namazova-Baranova,
- Valeria P. Novikova,
- Elena E. Petryaykina,
- Mariya M. Platonova,
- Aleksander S. Potapov,
- Olga Ya. Smirnova,
- Tatiana V. Strokova,
- Andrey N. Surkov,
- Nataliya N. Taran,
- Marina V. Fedoseenko,
- Nataliya A. Semenova,
- Inga V. Anisimova,
- Svetlana A. Repina,
- Dmitriy M. Subbotin,
- Valeria V. Sviridova,
- Anatoliy I. Havkin,
- Ekaterina A. Yablokova,
- Galina V. Volynets,
- Irina V. Sadovnikova,
- Elena L. Tumanova
Affiliations
- Natalia A. Averkina
- Russian Research Institute of Health
- Madlena E. Bagaeva
- Federal Research Centre of Nutrition and Biotechnology
- Aleksander A. Baranov
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical Academy
- Nato D. Vashakmadze
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Elena A. Vishneva
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Olga S. Gundobina
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
- Nataliya V. Zhurkova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
- Elena V. Kaitukova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Elena V. Komarova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Tea V. Margieva
- I.M. Sechenov Moscow Medical Academy
- Leyla S. Namazova-Baranova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Valeria P. Novikova
- Saint-Petersburg State Pediatric Medical University
- Elena E. Petryaykina
- Research 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 Russia
- Mariya M. Platonova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
- Aleksander S. Potapov
- I.M. Sechenov Moscow Medical Academy; Scientific Center of Children’s Health
- Olga Ya. Smirnova
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
- Tatiana V. Strokova
- Federal Research Centre of Nutrition and Biotechnology
- Andrey N. Surkov
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Nataliya N. Taran
- Federal Research Centre of Nutrition and Biotechnology
- Marina V. Fedoseenko
- Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Nataliya A. Semenova
- N.P. Bochkov Research Centre for Medical Genetics
- Inga V. Anisimova
- N.P. Bochkov Research Centre for Medical Genetics
- Svetlana A. Repina
- N.P. Bochkov Research Centre for Medical Genetics
- Dmitriy M. Subbotin
- N.P. Bochkov Research Centre for Medical Genetics
- Valeria V. Sviridova
- N.P. Bochkov Research Centre for Medical Genetics
- Anatoliy I. Havkin
- Research Clinical Institute of Childhood
- Ekaterina A. Yablokova
- Research Clinical Institute of Childhood
- Galina V. Volynets
- Yu.E. Veltishchev Research Clinical Institute of Pediatrics
- Irina V. Sadovnikova
- Privolzhsky Research Medical University
- Elena L. Tumanova
- Pirogov Russian National Research Medical University
- DOI
- https://doi.org/10.15690/pf.v21i3.2765
- Journal volume & issue
-
Vol. 21,
no. 3
pp. 263 – 288
Abstract
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.
Keywords
- abnormalities in glucose metabolism
- glycogen-storage disease
- glycogenosis
- clinical guidelines
- children
