Современные рекомендации по ведению пациентов с болезнью Гоше

В статье представлены данные по эпидемиологии, патогенезу, современной классификации и основным клиническим проявлениям болезни Гоше у детей. Приведены критерии дифференциальной диагностики с другими заболеваниями. Показано, что единственным эффективным методом лечения болезни Гоше служит патогенетическая ферментозаместительная терапия, которая купирует основные клинические проявления болезни, улучшает качество жизни больных и не оказывает выраженных побочных эффектов. Указаны основные ошибки диагностики и ведения пациентов, а также необоснованные назначения при лечении этого заболевания.

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 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. © 2024 Publishing House of the Union of Pediatricians. All rights reserved.

Authors
Anisimova I.V. , Baydakova G.V. , Baranov A.A. , Vashakmadze N.D. , Vishneva E.A. , Gundobina O.S. , Dobrynina E.A. , Zaharova E.Yu. , Kaytukova E.V. , Komarova E.V. , Kutsev S.I. , Lavrova A.E. , Mihaylova S.V. , Movsisyan G.B. , Nazarenko L.P. , Namazova-Baranova L.S. , Nikolaeva E.A. , Pervunina T.M. , Pechatnikova N.L. , Pogosyan N.S. , Potapov A.S. , Pushkov A.A. , Repina S.A. , Savostyanov K.V. , Selimzyanova L.R. , Smirnova O.Ya. , Smetanina N.S. , Strokova T.V. , Surkov A.N. , Fedoseenko M.V. , Batysheva T.T. , Bykova O.V. , Klimov Y.A. , Tihonov S.V.
Journal
Педиатрическая фармакология
Number of issue
6
Language
Russian
Pages
551-568
Status
Published
Link
External link
DOI
10.15690/PF.V21I6.2842
Volume
21
Year
2024
Organizations
  • 1 N.P. Bochkov Medical Genetics Research Centre, Moscow, Russian Federation
  • 2 Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation
  • 3 I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russian Federation
  • 4 Pirogov Russian National Research Medical University, Pirogov University), Moscow, Russian Federation
  • 5 Privolzhsky Research Medical University, Nizhny Novgorod, Russian Federation
  • 6 Russian Children’s Clinical Hospital, Moscow, Russian Federation
  • 7 National Medical Research Center for Children’s Health, Moscow, Russian Federation
  • 8 Research Institute of Medical Genetics, Tomsk, Russian Federation
  • 9 Yu. E. Veltischev Research and Clinical Institute for Pediatrics, Moscow, Russian Federation
  • 10 Almazov National Medical Research Centre, Saint Petersburg, Russian Federation
  • 11 Morozov Children’s City Clinical Hospital, Moscow, Russian Federation
  • 12 All-Russian Society of Orphan Diseases, Moscow, Russian Federation
  • 13 Dmitry Rogachev National Medical Research Center of pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
  • 14 Federal Research Centre of Nutrition, Biotechnology and Food Safety, Moscow, Russian Federation
  • 15 Scientific and Practical Center for Pediatric Psychoneurology, Moscow, Russian Federation
  • 16 Peoples’ Friendship University of Russia, Moscow, Russian Federation
Keywords
children; chitotriosidase; D-glucosidase; enzyme replacement therapy; Gaucher disease; hepatosplenomegaly; imiglucerase; болезнь Гоше; D-глюкозидаза; гепатоспленомегалия; ферментозаместительная терапия; имиглюцераза; дети
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