Modern Clinical Guidelines for the Management of Patients with Gaucher Disease

This article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given. It has been shown that the only effective method of treating Gaucher disease...

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Main Authors: Inga V. Anisimova, Galina V. Baydakova, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Elena A. Dobrynina, Ekaterina Yu. Zaharova, Elena V. Kaytukova, Elena V. Komarova, Sergey I, Kutsev, Alla E. Lavrova, Svetlana V. Mihaylova, Goar B. Movsisyan, Lyudmila P. Nazarenko, Leyla S. Namazova-Baranova, Ekaterina A. Nikolaeva, Tatiana M. Pervunina, Natalia L. Pechatnikova, Nelya S. Pogosyan, Aleksander S. Potapov, Aleksander A. Pushkov, Svetlana A. Repina, Kirill V. Savostyanov, Liliya R. Selimzyanova, Olga Ya. Smirnova, Natalia S. Smetanina, Tatiana V. Strokova, Andrey N. Surkov, Marina V. Fedoseenko, Tatiana T. Batysheva, Olga V. Bykova, Yuriy A. Klimov, Sergey V. Tihonov
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2024-12-01
Series:Педиатрическая фармакология
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Online Access:https://www.pedpharma.ru/jour/article/view/2555
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author Inga V. Anisimova
Galina V. Baydakova
Aleksander A. Baranov
Nato D. Vashakmadze
Elena A. Vishneva
Olga S. Gundobina
Elena A. Dobrynina
Ekaterina Yu. Zaharova
Elena V. Kaytukova
Elena V. Komarova
Sergey I, Kutsev
Alla E. Lavrova
Svetlana V. Mihaylova
Goar B. Movsisyan
Lyudmila P. Nazarenko
Leyla S. Namazova-Baranova
Ekaterina A. Nikolaeva
Tatiana M. Pervunina
Natalia L. Pechatnikova
Nelya S. Pogosyan
Aleksander S. Potapov
Aleksander A. Pushkov
Svetlana A. Repina
Kirill V. Savostyanov
Liliya R. Selimzyanova
Olga Ya. Smirnova
Natalia S. Smetanina
Tatiana V. Strokova
Andrey N. Surkov
Marina V. Fedoseenko
Tatiana T. Batysheva
Olga V. Bykova
Yuriy A. Klimov
Sergey V. Tihonov
author_facet Inga V. Anisimova
Galina V. Baydakova
Aleksander A. Baranov
Nato D. Vashakmadze
Elena A. Vishneva
Olga S. Gundobina
Elena A. Dobrynina
Ekaterina Yu. Zaharova
Elena V. Kaytukova
Elena V. Komarova
Sergey I, Kutsev
Alla E. Lavrova
Svetlana V. Mihaylova
Goar B. Movsisyan
Lyudmila P. Nazarenko
Leyla S. Namazova-Baranova
Ekaterina A. Nikolaeva
Tatiana M. Pervunina
Natalia L. Pechatnikova
Nelya S. Pogosyan
Aleksander S. Potapov
Aleksander A. Pushkov
Svetlana A. Repina
Kirill V. Savostyanov
Liliya R. Selimzyanova
Olga Ya. Smirnova
Natalia S. Smetanina
Tatiana V. Strokova
Andrey N. Surkov
Marina V. Fedoseenko
Tatiana T. Batysheva
Olga V. Bykova
Yuriy A. Klimov
Sergey V. Tihonov
author_sort Inga V. Anisimova
collection DOAJ
description This article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given. It has been shown that the only effective method of treating Gaucher disease is pathogenetic enzyme replacement therapy, which relieves the main clinical manifestations of the disease, improving the quality of life of patients and without having pronounced side effects. The main errors of diagnosis and management of patients, as well as unjustified prescriptions for the treatment of this disease, are indicated.
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series Педиатрическая фармакология
spelling doaj-art-aef7e75a2d1f4182ae1f2f5185c04a3a2025-08-20T03:59:21ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892024-12-0121655156810.15690/pf.v21i6.28422143Modern Clinical Guidelines for the Management of Patients with Gaucher DiseaseInga V. Anisimova0Galina V. Baydakova1Aleksander A. Baranov2Nato D. Vashakmadze3Elena A. Vishneva4Olga S. Gundobina5Elena A. Dobrynina6Ekaterina Yu. Zaharova7Elena V. Kaytukova8Elena V. Komarova9Sergey I, Kutsev10Alla E. Lavrova11Svetlana V. Mihaylova12Goar B. Movsisyan13Lyudmila P. Nazarenko14Leyla S. Namazova-Baranova15Ekaterina A. Nikolaeva16Tatiana M. Pervunina17Natalia L. Pechatnikova18Nelya S. Pogosyan19Aleksander S. Potapov20Aleksander A. Pushkov21Svetlana A. Repina22Kirill V. Savostyanov23Liliya R. Selimzyanova24Olga Ya. Smirnova25Natalia S. Smetanina26Tatiana V. Strokova27Andrey N. Surkov28Marina V. Fedoseenko29Tatiana T. Batysheva30Olga V. Bykova31Yuriy A. Klimov32Sergey V. Tihonov33N.P. BoNot declaredchkov Medical Genetics Research CentreN.P. Bochkov Medical Genetics Research CentreResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov First Moscow State Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryN.P. Bochkov Medical Genetics Research CentreResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryN.P. Bochkov Medical Genetics Research CentrePrivolzhsky Research Medical UniversityRussian Children’s Clinical HospitalNational Medical Research Center for Children’s HealthResearch Institute of Medical GeneticsResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityYu. E. Veltischev Research and Clinical Institute for PediatricsAlmazov National Medical Research CentreMorozov Children’s City Clinical HospitalAll-Russian Society of Orphan DiseasesI.M. Sechenov First Moscow State Medical University; National Medical Research Center for Children’s HealthNational Medical Research Center for Children’s HealthN.P. Bochkov Medical Genetics Research CentreNational Medical Research Center for Children’s HealthResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryDmitry Rogachev National Medical Research Center of pediatric Hematology, Oncology and ImmunologyFederal Research Centre of Nutrition, Biotechnology and Food SafetyResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityScientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of RussiaScientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of RussiaScientific and Practical Center for Pediatric PsychoneurologyScientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of RussiaThis article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given. It has been shown that the only effective method of treating Gaucher disease is pathogenetic enzyme replacement therapy, which relieves the main clinical manifestations of the disease, improving the quality of life of patients and without having pronounced side effects. The main errors of diagnosis and management of patients, as well as unjustified prescriptions for the treatment of this disease, are indicated.https://www.pedpharma.ru/jour/article/view/2555gaucher diseased-glucosidasechitotriosidasehepatosplenomegalyenzyme replacement therapyimiglucerasechildren
spellingShingle Inga V. Anisimova
Galina V. Baydakova
Aleksander A. Baranov
Nato D. Vashakmadze
Elena A. Vishneva
Olga S. Gundobina
Elena A. Dobrynina
Ekaterina Yu. Zaharova
Elena V. Kaytukova
Elena V. Komarova
Sergey I, Kutsev
Alla E. Lavrova
Svetlana V. Mihaylova
Goar B. Movsisyan
Lyudmila P. Nazarenko
Leyla S. Namazova-Baranova
Ekaterina A. Nikolaeva
Tatiana M. Pervunina
Natalia L. Pechatnikova
Nelya S. Pogosyan
Aleksander S. Potapov
Aleksander A. Pushkov
Svetlana A. Repina
Kirill V. Savostyanov
Liliya R. Selimzyanova
Olga Ya. Smirnova
Natalia S. Smetanina
Tatiana V. Strokova
Andrey N. Surkov
Marina V. Fedoseenko
Tatiana T. Batysheva
Olga V. Bykova
Yuriy A. Klimov
Sergey V. Tihonov
Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
Педиатрическая фармакология
gaucher disease
d-glucosidase
chitotriosidase
hepatosplenomegaly
enzyme replacement therapy
imiglucerase
children
title Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
title_full Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
title_fullStr Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
title_full_unstemmed Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
title_short Modern Clinical Guidelines for the Management of Patients with Gaucher Disease
title_sort modern clinical guidelines for the management of patients with gaucher disease
topic gaucher disease
d-glucosidase
chitotriosidase
hepatosplenomegaly
enzyme replacement therapy
imiglucerase
children
url https://www.pedpharma.ru/jour/article/view/2555
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