Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in liver and muscles) occurs due to enzyme defects. The authors present recent epidemiological data and features of glycogen storage disease etiology and pathogenesis. Clinical characteristics of different types of this disease are also presented. The data on laboratory-instrumental and morphological signs of glycogen storage disease in children, as well as data on its treatment methods is provided in accordance with the developed clinical guidelines. The article provides relevant information on disease types with predominant liver involvement, besides the variety of clinical forms of glycogenosis

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.Дефицит лизосомной кислой липазы — редкая наследственная ферментопатия. В статье представлены эпидемиологические данные и особенности этиопатогенеза двух фенотипических форм дефицита лизосомной кислой липазы — болезни Вольмана и болезни накопления эфиров холестерина. Подробно описаны клинические характеристики быстропрогрессирующей формы и медленно развивающейся болезни накопления эфиров холестерина. Особое внимание уделено ключевым вопросам дифференциально-диагностического поиска, приведены рекомендации по лечению, основанные на принципах доказательной медицины