Open AccessMODERN POSSIBILITIES OF HEREDITARY DISEASES TREATMENT IN CHILDREN
Author(s) -
Е. А. Николаева,
А. Н. Семячкина
Publication year - 2018
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2018-63-4-6-14
Subject(s) - homocystinuria , medicine , genetic enhancement , habilitation , medical therapy , pediatrics , idebenone , intensive care medicine , hereditary diseases , disease , pathology , genetics , philosophy , amino acid , methionine , biology , humanities , gene
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.