22q11.2 deletion syndrome medical therapy

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22q11.2 deletion syndrome Microchapters

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Overview

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Pathophysiology

Differentiating 22q11.2 deletion syndrome from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Medical Therapy

Although genetic transplantation methods are currently being developed by researchers, there is yet no genetic treatment of this disease.

It is important that the immune problems are identified early as special precautions are required regarding blood transfusion and immunisation with live vaccines.

Treatment is largely symptomatic, infections are treated with antibiotics. Hypoparathyroidism causing hypocalcaemia is often transient, but may require lifelong vitamin D treatment.

Thymus transplantation can be used to address absence of the thymus in complete DiGeorge syndrome.[1]

References

  1. Markert ML, Devlin BH, Alexieff MJ; et al. (2007). "Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants". Blood. 109 (10): 4539–47. PMID 17284531. doi:10.1182/blood-2006-10-048652. 

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