DiGeorge syndrome

treatment

General: There is currently no cure for DiGeorge syndrome (DGS). Supplements with calcium and vitamin D are used to manage an underactive parathyroid gland. A bone marrow transplant may help boost the immune system. Early thymus transplantations are controversial because their safety and effectiveness remain unclear.
Bone marrow transplant (BMT): Bone marrow transplants (BMTs) have been conducted with varying results. In studies, some patients experienced a boost in their immune systems after a BMT. However, it is unknown whether these patients had partial DGS. Patients who have partial DGS may experience spontaneous improvements in T-cell functioning.
Calcium supplements: Calcium supplements are typically given to patients who have an underactive parathyroid gland. Calcium gluconate (Kalcinate®) has been administered intravenously (injected into the vein) to prevent seizures associated with low levels of calcium. Alternatively, calcium carbonate (Os-Cal®, Titralac®, Oystercal,® or Caltrate®) has been taken by mouth.
Early thymus transplant: It remains unknown whether an early thymus transplant is safe and beneficial for patients with DGS. During this procedure, the thymus gland of a fetus is surgically transplanted into a young DGS patient. The transplanted thymus tissue is taken from a newborn who received heart surgery. During heart surgery, a small amount of thymus tissue must be removed in order for the surgeon to reach the heart. Instead of discarding the thymus tissue, it can be transplanted into a newborn with DGS. It is recommended that the transplant be conducted before complications of infections develop.
Patients who have partial DGS do not require thymus transplants because their T-cells may spontaneously improve.
Vitamin D supplements: Vitamin D supplements are typically given to patients who have an underactive parathyroid gland. Supplementation with vitamin D helps the body absorb more calcium, which subsequently helps prevent seizures in DGS patients. A liquid solution called ergocalciferol, vitamin D-2 (Drisdol®) has been taken by mouth along with calcium supplements.

integrative therapies

Currently, there is insufficient available evidence on the safety and efficacy of integrative therapies for the treatment or prevention of DiGeorge syndrome.

prevention

Currently, there is no known method to prevent DiGeorge Syndrome (DGS).
Patients should take precautions to avoid contracting infections associated with the disease, such as thoroughly washing their hands with soap and water. Patients should talk to their healthcare providers about recommended immunizations. Patients should avoid close contact with individuals who have contagious illnesses because they have an increased risk of contracting infections.
Patients who have the disorder may wish to receive genetic counseling. A counselor will provide information and answer questions about the risk of passing the disorder on to the patient's children