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

И В Анисимова ,Nelia S Pogosian,А.н Сурков ,Marat V Ezhov ,С А Репина ,Galina Baydakova ,Н Л Печатникова ,Elena Kamenets ,Т А Скворцова ,L.r Selimzyanova ,А А Баранов ,Marina Albegova ,E.e Petryaykina ,Irina A Matinian ,Dmitriy M Subbotin ,О С Гундобина ,Svetlana Mikhaylova ,А.е Лаврова ,Maria S Zharkova ,Ivashkin Vt ,Т.в Строкова ,Anna Degtyareva ,Ekaterina Zakharova ,Н Д Вашакмадзе ,M.e Bagaeva ,Н В Журкова ,Е Л Туманова ,Irina Pashkova ,Л.с Намазова-Баранова ,Е.а Вишнева ,С И Куцев ,T M Pervunina ,Ekaterina G Tzimbalova

doi:10.15690/pf.v20i4.2602

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.

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