Modern Clinical Guidelines for the Management of Patients with Gaucher Disease

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
Subjects:
gaucher disease
d-glucosidase
chitotriosidase
hepatosplenomegaly
enzyme replacement therapy
imiglucerase
children
Online Access:https://www.pedpharma.ru/jour/article/view/2555
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Summary: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.
ISSN:1727-5776
2500-3089

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