Педиатрическая фармакология (Aug 2023)
Clinical guidelines for the management of children with lysosomal acid lipase deficiency
- Inga V. Anisimova,
- Marina B. Albegova,
- Madlena E. Bagaeva,
- Galina V. Baidakova,
- Aleksandr A. Baranov,
- Nato D. Vashakmadze,
- Elena A. Vishneva,
- Olga S. Gundobina,
- Anna V. Degtiareva,
- Marat V. Ezhov,
- Maria S. Zharkova,
- Nataliia V. Zhurkova,
- Ekaterina Yu. Zaharova,
- Vladimir T. Ivashkin,
- Elena A. Kamenets,
- Sergey I. Kutzev,
- Alla E. Lavrova,
- Irina A. Matinian,
- Svetlana V. Mikhailova,
- Leyla S. Namazova-Baranova,
- Irina E. Pashkova,
- Elena E. Petriaykina,
- Tatiana M. Pervunina,
- Nataliia L. Pechatnikova,
- Nelia S. Pogosian,
- Svetlana A. Repina,
- Lilia R. Selimzianova,
- Tamara A. Skvortsova,
- Tatiana V. Strokova,
- Dmitriy M. Subbotin,
- Andrey N. Surkov,
- Elena L. Tumanova,
- Ekaterina G. Tzimbalova
Affiliations
- Inga V. Anisimova
- N.P. Bochkov Medical Genetics Research Centre
- Marina B. Albegova
- V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine
- Madlena E. Bagaeva
- Federal Research Centre of Nutrition, Biotechnology and Food Safety
- Galina V. Baidakova
- N.P. Bochkov Medical Genetics Research Centre
- Aleksandr 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; N.I. Pirogov Russian National Research Medical University
- Elena A. Vishneva
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; N.I. Pirogov Russian National Research Medical University
- Olga S. Gundobina
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery
- Anna V. Degtiareva
- V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine; I.M. Sechenov Moscow Medical Academy
- Marat V. Ezhov
- A.L. Miasnikov Scientific Research Institute of Clinical Cardiology of National Medical Research Center of Cardiology
- Maria S. Zharkova
- I.M. Sechenov Moscow Medical Academy
- Nataliia V. Zhurkova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery
- Ekaterina Yu. Zaharova
- N.P. Bochkov Medical Genetics Research Centre
- Vladimir T. Ivashkin
- I.M. Sechenov Moscow Medical Academy
- Elena A. Kamenets
- N.P. Bochkov Medical Genetics Research Centre
- Sergey I. Kutzev
- N.P. Bochkov Medical Genetics Research Centre
- Alla E. Lavrova
- Privolzhsky Research Medical University
- Irina A. Matinian
- Federal Research Centre of Nutrition, Biotechnology and Food Safety
- Svetlana V. Mikhailova
- Russian Children's Clinical Hospital
- Leyla S. Namazova-Baranova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; N.I. Pirogov Russian National Research Medical University
- Irina E. Pashkova
- V.I. Shumakov National Medical Research Centre of Transplantology and Artificial Organs
- Elena E. Petriaykina
- N.I. Pirogov Russian National Research Medical University; Russian Children's Clinical Hospital; Peoples' Friendship University of Russia
- Tatiana M. Pervunina
- V.A. Almazov National Medical Research Centre
- Nataliia L. Pechatnikova
- Morozov Children's City Clinical Hospital
- Nelia S. Pogosian
- All Russia Association of the Orphan Diseases
- Svetlana A. Repina
- N.P. Bochkov Medical Genetics Research Centre
- Lilia R. Selimzianova
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical Academy; N.I. Pirogov Russian National Research Medical University
- Tamara A. Skvortsova
- Morozov Children's City Clinical Hospital
- Tatiana V. Strokova
- Federal Research Centre of Nutrition, Biotechnology and Food Safety
- Dmitriy M. Subbotin
- N.P. Bochkov Medical Genetics Research Centre
- Andrey N. Surkov
- Research Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; N.I. Pirogov Russian National Research Medical University
- Elena L. Tumanova
- N.I. Pirogov Russian National Research Medical University
- Ekaterina G. Tzimbalova
- Russian Children's Clinical Hospital
- DOI
- https://doi.org/10.15690/pf.v20i4.2602
- Journal volume & issue
-
Vol. 20,
no. 4
pp. 337 – 354
Abstract
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.
Keywords
- lysosomal acid lipase deficiency
- wolman disease
- cholesterol ester storage disease
- diagnostics
- management
- enzyme replacement therapy
- children
