MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN
| Autor: | E. A. Nikolaeva, A. N. Semyachkina |
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| Jazyk: | ruština |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 4, Pp 6-14 (2018) |
| Druh dokumentu: | article |
| ISSN: | 1027-4065 2500-2228 |
| DOI: | 10.21508/1027-4065-2018-63-4-6-14 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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