MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN
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 phenylket...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2018-09-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/690 |
| _version_ | 1797875254127755264 |
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| author | E. A. Nikolaeva A. N. Semyachkina |
| author_facet | E. A. Nikolaeva A. N. Semyachkina |
| author_sort | E. A. Nikolaeva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:43:36Z |
| format | Article |
| id | doaj.art-9d353b98e58d4b81aab86a12e3d7ba4d |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:43:36Z |
| publishDate | 2018-09-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-9d353b98e58d4b81aab86a12e3d7ba4d2023-03-13T09:12:45ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282018-09-0163461410.21508/1027-4065-2018-63-4-6-14603MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDRENE. A. Nikolaeva0A. N. Semyachkina1ОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. ПироговаОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. ПироговаIn 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.https://www.ped-perinatology.ru/jour/article/view/690детинаследственные болезни обмена веществлизосомные болезнимитохондриальные болезнидиетотерапиякофакторная терапиялевокарнитинферментозаместительная терапиягенная терапия |
| spellingShingle | E. A. Nikolaeva A. N. Semyachkina MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN Rossijskij Vestnik Perinatologii i Pediatrii дети наследственные болезни обмена веществ лизосомные болезни митохондриальные болезни диетотерапия кофакторная терапия левокарнитин ферментозаместительная терапия генная терапия |
| title | MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN |
| title_full | MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN |
| title_fullStr | MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN |
| title_full_unstemmed | MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN |
| title_short | MODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN |
| title_sort | modern possibilities of hereditary diseases treatment in children |
| topic | дети наследственные болезни обмена веществ лизосомные болезни митохондриальные болезни диетотерапия кофакторная терапия левокарнитин ферментозаместительная терапия генная терапия |
| url | https://www.ped-perinatology.ru/jour/article/view/690 |
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