Clinical guidelines for the management of children with lysosomal acid lipase deficiency; [Клинические рекомендации по ведению детей с дефицитом лизосомной кислой липазы]

Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency - Wolman disease and cholesterol ester storage disease. Special attention has been given to the key issues of differential diagnostic search, clinical guidelines based on the principles of evidence-based medicine have been given. © 2023 The Author(s).

Авторы
Anisimova I.V. , Albegova M.B. , Bagaeva M.E. , Baidakova G.V. , Baranov A.A. , Vashakmadze N.D. , Vishneva E.A. , Gundobina O.S. , Degtiareva A.V. , Ezhov M.V. , Zharkova M.S. , Zhurkova N.V. , Zaharova E.Yu. , Ivashkin V.T. , Kamenets E.A. , Kutzev S.I. , Lavrova A.E. , Matinian I.A. , Mikhailova S.V. , Namazova-Baranova L.S. , Pashkova I.E. , Petriaykina E.E. , Pervunina T.M. , Pechatnikova N.L. , Pogosian N.S. , Repina S.A. , Selimzianova L.R. , Skvortsova T.A. , Strokova T.V. , Subbotin D.M. , Surkov A.N. , Tumanova E.L. , Tzimbalova E.G.
Журнал
Педиатрическая фармакология
Номер выпуска
4
Язык
Русский
Страницы
337-354
Статус
Опубликовано
Ссылка
Внешняя ссылка
DOI
10.15690/PF.V20I4.2602
Том
20
Год
2023
Организации
  • 1 N.P. Bochkov Medical Genetics Research Centre, Moscow, Russian Federation
  • 2 V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine, Moscow, Russian Federation
  • 3 Federal Research Centre of Nutrition, Biotechnology and Food Safety, Moscow, Russian Federation
  • 4 Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery, Moscow, Russian Federation
  • 5 I.M. Sechenov Moscow Medical Academy, Moscow, Russian Federation
  • 6 N.I. Pirogov Russian National Research Medical University, Moscow, Russian Federation
  • 7 A.L. Miasnikov Scientific Research Institute of Clinical Cardiology of National Medical Research Center of Cardiology, Moscow, Russian Federation
  • 8 Privolzhsky Research Medical University, Nizhny Novgorod, Russian Federation
  • 9 Russian Children's Clinical Hospital, Moscow, Russian Federation
  • 10 V.I. Shumakov National Medical Research Centre of Transplantology and Artificial Organs, Moscow, Russian Federation
  • 11 Peoples' Friendship University of Russia, Moscow, Russian Federation
  • 12 V.A. Almazov National Medical Research Centre, Saint Petersburg, Russian Federation
  • 13 Morozov Children's City Clinical Hospital, Moscow, Russian Federation
  • 14 All Russia Association of the Orphan Diseases, Moscow, Russian Federation
Ключевые слова
children; cholesterol ester storage disease; diagnostics; enzyme replacement therapy; lysosomal acid lipase deficiency; management; Wolman disease
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