Modern Possibilities of Hereditary Diseases Treatment in Children

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.

Mitochondrial dysfunctions and antihypoxants

“…Primary mitochondrial dysfunctions are manifested mainly by the central and peripheral nervous, muscular and cardiovascular system disorders, i. e. those systems and tissues which cells are the richest in mitochondria number. Their main symptoms are muscle weakness, intolerance to physical exertion, retardation in neuropsychic development, declined growth, in some cases muscle pain, vomiting, cramps, stroke-like episodes, hearing loss, ptosis and ophthalmoplegia [18,37,65].…”

“…In primary MD, the main histological (morphological), enzymatic and functional criteria are: 1) raggedred fibers (RRF) in the muscles in an amount more than 2% (biopsy of skeletal muscles, usually quadriceps or deltoid, is performed); 2) the presence of cytochrome oxidase-negative fibers; 3) the decrease of the respiratory chain complex activity <20-30% of the norm; 4) determination of succinate dehydrogenase in peripheral lymphocytes; 5) subsarcolemmal accumulation of glycogen, lipids, calcium ions (the accumulation of fat drops in various tissues, including muscle fibers, occurs as a result of impaired oxidation of FAc) [37,65].…”

“…There is a lot of literature data about L-carnitine use in various mitochondrial diseases. But the results of its effectiveness are contradictory [37]. The use of L-carnitine in placebo-controlled trials for patients with MELAS syndrome in dose 4-10 g/day caused decrease in muscle weakness and lactate level after physical exertion [22,27].…”

“…Its effectiveness is manifested in daily dose 300-1500 mg. The positive result from coenzyme Q10 taking was proved during the placebo-controlled study in patients with MELAS syndrome and progressive ophthalmoplegia [37,46]. The usefulness of coenzyme Q10 4 month course as a part of the combined energotropic therapy in children with early signs of autism has been noted [65].…”

“…The differences are in the recommended doses, courses of application (in primary MD antihypoxants should be used for prolong time as replacement therapy, in secondary MD -from several weeks to several months). The combined use of antihypoxants with different mechanism of action is the most promising [37,65].…”