MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN
https://doi.org/10.21508/1027-4065-2018-63-4-6-14
Abstract
In recent decades, the progressive development of medical genetics has led to significant advances in the diagnosis and therapy of hereditary pathology. As a result, the attitude of clinicians to hereditary diseases as to fatal and incurable, is gradually changing. Early dietary therapy of phenylketonuria and a number of other diseases provides full medical and social habilitation of children. Cofactor therapy, including a special vitamin therapy, is crucial in the treatment of enzymopathiessuch as: lack of biotinidase, homocystinuria, etc. Levocarnitine therapy shows high efficiency in a number of organic acidemias. A breakthrough in the treatment of lysosomal diseases should be considered the development of enzyme-substituting and substrate-reducing drugs. Further improvement of the effectiveness of hereditary diseases treatment seems to be associated with the introduction of gene therapy methods.
About the Authors
E. A. Nikolaeva
Research and Clinical Institute for Pediatrics named after Academician Yu.E. Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. N. Semyachkina
Research and Clinical Institute for Pediatrics named after Academician Yu.E. Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Nikolaeva E.A., Semyachkina A.N. MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2018;63(4):6-14. (In Russ.) https://doi.org/10.21508/1027-4065-2018-63-4-6-14
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