Clinical guidelines for the management of children with lysosomal acid lipase deficiency

Clinical guidelines for the management of children with lysosomal acid lipase deficiency

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Pediatricheskai͡a︡ farmakologii͡a︡ : nauchno-prakticheskiĭ zhurnal Soi͡u︡za pediatrov Rossii 2023-08, Vol.20 (4), p.337-354
Hauptverfasser: Anisimova, Inga V., Albegova, Marina B., Bagaeva, Madlena E., Baidakova, Galina V., Baranov, Aleksandr A., Vashakmadze, Nato D., Vishneva, Elena A., Gundobina, Olga S., Degtiareva, Anna V., Ezhov, Marat V., Zharkova, Maria S., Zhurkova, Nataliia V., Zaharova, Ekaterina Yu, Ivashkin, Vladimir T., Kamenets, Elena A., Kutzev, Sergey I., Lavrova, Alla E., Matinian, Irina A., Mikhailova, Svetlana V., Namazova-Baranova, Leyla S., Pashkova, Irina E., Petriaykina, Elena E., Pervunina, Tatiana M., Pechatnikova, Nataliia L., Pogosian, Nelia S., Repina, Svetlana A., Selimzianova, Lilia R., Skvortsova, Tamara A., Strokova, Tatiana V., Subbotin, Dmitriy M., Surkov, Andrey N., Tumanova, Elena L., Tzimbalova, Ekaterina G.
Format: Artikel
Sprache:eng ; rus
Schlagworte:
children
cholesterol ester storage disease
diagnostics
enzyme replacement therapy
lysosomal acid lipase deficiency
management
wolman disease
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:1727-5776
2500-3089
DOI:10.15690/pf.v20i4.2602