Neurofibromatosis treatment

Content

  • Mutant genes
  • About the treatment of neurofibromatosis



  • Mutant genes

    Type neurofibromatosis is a severe systemic hereditary disease with preferably lesions of the skin and nervous system, one of the most common monogenic human diseases, occurring at no less than 1: 3000 - 1: 4000 population.

    The disease is due to the mutation of the gene called «NF1» In the 17Q chromosome. Men and women are amazed equally often. Approximately half of the cases - a consequence of new mutations.

    The disease is characterized by a progressive course, high frequency of complications, including leading to death (development of cardiovascular failure due to severe skeletal anomalies, malignant rebirth of neurofibrom (nerve tumors), etc.).

    The mechanism of development of clinical manifestations is unknown. There is a suggestion that the gene «NF 1» enters the group of genes overwhelming tumors.

    About the development of neurofibrom knows a little. From time to time, their number and sizes are growing in response to various incentives, among which the leading place is occupied by:

    • Hormonal restructuring of the body,
    • Puberta (puberty period),
    • pregnancy or after childbirth,
    • Transferred injuries,
    • severe somatic diseases.


    About the treatment of neurofibromatosis

    Neurofibromatosis treatmentWith the expansion of the spectrum of the proposed commercial medical and cosmetic services, the number of patients's appeals indicating the emergence of new tumors (neurofibrom, in neurine, shwann) after the so-called heroic interventions increased significantly. We are talking about the removal of tumors with a diagnostic or therapeutic purpose of various methods, including with the help of surgical excision.

    The complications can also lead to the appointment of physiotherapeutic procedures in the treatment of various somatic diseases, the correction of skeletal disorders (all kinds of species of scoliosis, fractures) and neuromuscular disorders (very often massage in various reasons is appointed childcare children, when the diagnosis of type I neurofibromatosis is often impossible for lack of clinical manifestations). But often the disease progresses and on the background of apparent well-being. The situation is complicated by the fact that doctors have no opportunity to suspend the development of the disease.

    The main task of scientific research seems to develop methods of pathogenetic treatment of neurofibromatosis I type, allowing to restrain the emergence of new and growth of existing tumors, as well as prevent the development of complications.

    Currently, for the treatment of this disease, both abroad and in Russia, methods of symptomatic therapy are used, as, for example, surgical removal of tumors, correction of kifoscolyiosis or radiation therapy of the neurofibr of internal organs. In addition, scientists in the West concentrated on the possibilities of etiological treatment, that is, genetic engineering. Especially far, this direction has advanced since the opening of the mutant gene and deciphering its primary product - neurofibromine in 1990; Huge funds are allocated for scientific research related to this problem.

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