Ataxia telangiectasia medical therapy: Difference between revisions
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{{Ataxia telangiectasia}} | {{Ataxia telangiectasia}} | ||
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== Medical Therapy == | == Medical Therapy == | ||
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Treatment is symptomatic and supportive. Physical and [[occupational therapy]] may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used. Antibiotics are used to treat infections. Some physicians recommend low doses of [[chemotherapy]] to reduce the risk of cancer but this is controversial. It is also recommended that heterozygote family members are regularly monitored for cancers. | Treatment is symptomatic and supportive. Physical and [[occupational therapy]] may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used. Antibiotics are used to treat infections. Some physicians recommend low doses of [[chemotherapy]] to reduce the risk of cancer but this is controversial. It is also recommended that heterozygote family members are regularly monitored for cancers. | ||
Recently desferroxamine was shown to increase the stability of AT cells and may prove to be an effective treatment for the disorder. | Recently desferroxamine was shown to increase the stability of AT cells and may prove to be an effective treatment for the disorder. | ||
<br>A cohort study has shown that most '''A-T''' patients suffering from malignancies, benefit from monthly transfusions of dexamethasone-loaded autologous erythrocytes. '''Allogeneic hematopoietic stem cell transplantation (alloHSCT)''' seems beneficial for preventing hematological malignancies and improving immunity, though due to its toxicity is not performed in '''A-T''' patients routinely.<ref name="titleAtaxia-Telangiectasia: Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, et al. . Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. J Allergy Clin Immunol.">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215822/#B3}}</ref> | |||
=== Genetic Counseling === | === Genetic Counseling === | ||
Latest revision as of 16:30, 12 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Medical Therapy
Treatment is symptomatic and supportive. Physical and occupational therapy may help maintain flexibility. Speech therapy may also be needed. Gamma-globulin injections may be given to help supplement a weakened immune system. High-dose vitamin regimens may also be used. Antibiotics are used to treat infections. Some physicians recommend low doses of chemotherapy to reduce the risk of cancer but this is controversial. It is also recommended that heterozygote family members are regularly monitored for cancers.
Recently desferroxamine was shown to increase the stability of AT cells and may prove to be an effective treatment for the disorder.
A cohort study has shown that most A-T patients suffering from malignancies, benefit from monthly transfusions of dexamethasone-loaded autologous erythrocytes. Allogeneic hematopoietic stem cell transplantation (alloHSCT) seems beneficial for preventing hematological malignancies and improving immunity, though due to its toxicity is not performed in A-T patients routinely.[1]
Genetic Counseling
All individuals with AT should undergo genetic counseling along with their families. This is especially important due to the increased risk of cancers that heterozygotes have. There is also an associated risk to any other children born to the parents of the affected child.
References
- ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215822/#B3. Missing or empty
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