Lysosomal storage diseases: The topical problem of pediatrics and the current possibilities of pathogenetic treatment
Abstract
The paper presents the topical problems of lysosomal storage disorders that belong to a group of rare (orphan) diseases. Increased attention in this pathology is primarily due to the emerged possibilities of pathogenetic therapy with genetically engineered enzyme replacement agents to correct metabolic disorders. Emphasis is placed on the high total rate of these diseases, which serves as the basis for proposing their inclusion in a category of diseases to undergo mass neonatal screening. The paper briefly characterizes individual forms of liposomal storage diseases, such as mucopolysaccharides, mucolipidoses, and sphingolipidoses, and presents their treatment options. Particular attention is given to the need for preventing this pathology, by using up-to-date medical genetic counseling methods, which lets us reduce a genetic load for society and a family.
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Review
For citations:
Novikov P.V. Lysosomal storage diseases: The topical problem of pediatrics and the current possibilities of pathogenetic treatment. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2014;59(4):4-9. (In Russ.)
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