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Kotalevskaya Yu.Yu.

M.F. Vladimirsky Moscow Regional Research Clinical Institute

Wolman’s disease

Authors:

Kotalevskaya Yu.Yu.

More about the authors

Journal: Non Nocere. New Therapeutic Journal. 2025;(1‑2): 92‑96

Read: 241 times

To cite this article:

Kotalevskaya YuYu. Wolman’s disease. Non Nocere. New Therapeutic Journal. 2025;(1‑2):92‑96. (In Russ.)

References:

  1. Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab. 2017 Jan-Feb;120(1-2):62-66.  https://doi.org/10.1016/j.ymgme.2016.11.002
  2. Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Wolman’s disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017 Sep;2(9):670-679.  https://doi.org/10.1016/S2468-1253(17)30052-3
  3. Degtyareva A.V., Puchkova A.A., Zhdanova S.I., Degtyarev D.N. Wolman disease is a severe infant form of lysosomal acid lipase deficiency. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2019; https://doi.org/10.24411/2308-2402-2019-12003
  4. Anisimova I.V., Albegova M.B., Bagaeva M.E., et al. Clinical guidelines for the management of children with lysosomal acid lipase deficiency. Pediatric pharmacology. 2023;20(4):337-354. (In Russ.) https://doi.org/10.15690/pf.v20i4.2602
  5. Grabowski GA, Du H, Charnas L. Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum // The Online Metabolic and Molecular Bases of Inherited Disease. 2014.
  6. Santos Silva E, Klaudel-Dreszler M, Bakuła A, et al. Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. Clin Res Hepatol Gastroenterol. 2018 Oct;42(5): e77–e82.  https://doi.org/10.1016/j.clinre.2018.03.012
  7. Sadhukhan M, Saha A, Vara R, Bhaduri B. Infant case of lysosomal acid lipase deficiency: Wolman’s disease. BMJ Case Rep. 2014 May 15;2014: bcr2013202652. https://doi.org/10.1136/bcr2013-202652
  8. Fedyakov M.A., Barbitov Yu.A., Serebryakova E.A., et al. The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population. Pediatric pharmacology. 2018;15(2):184-185. (In Russ.) https://doi.org/10.15690/pf.v15i2.1876
  9. Goldstein JL, Dana SE, Faust JR, Beaudet AL, Brown MS. Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease. J Biol Chem. 1975 Nov 10;250(21):8487-8495.
  10. Pritchard AB, Strong A, Ficicioglu C. Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency. Orphanet J Rare Dis. 2020 Feb 24;15(1):58.  https://doi.org/10.1186/s13023-020-1328-6
  11. Reiner Ž, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014 Jul;235(1):21-30.  https://doi.org/10.1016/j.atherosclerosis.2014.04.003
  12. Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013 Jun;58(6):1230-1243. https://doi.org/10.1016/j.jhep.2013.02.014
  13. Decarlis S, Agostoni C, Ferrante F, Scarlino S, Riva E, Giovannini M. Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1: S11-13.  https://doi.org/10.1007/s10545-008-1027-2
  14. Malinová V, Balwani M, Sharma R, et al. Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study. Liver Int. 2020 Sep;40(9):2203-2214. https://doi.org/10.1111/liv.14603

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