Branchiootorenal syndrome

Treatment

What are the first steps after an initial diagnosis of branchiootorenal syndrome?

After a diagnosis of branchiootorenal (BOR) syndrome is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in the disorder. People diagnosed with BOR syndrome will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

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Is there a cure for branchiootorenal syndrome?

Can I make sure my baby won't be affected with branchiootorenal syndrome before I become pregnant?

Is there a cure for branchiootorenal syndrome?

There is no one treatment that can improve all the symptoms of branchiootorenal (BOR) syndrome. Treatment is aimed at the specific symptoms of the condition. BOR syndrome causes problems with the neck, ears, kidneys and other organ systems.

In children with hearing loss, treatment depends on the type of hearing loss they have. It may include hearing aids or surgery. Speech therapy may help children having difficulty learning to talk because of hearing problems. Surgery may also be necessary to remove the abnormal passages or "tunnels" (fistulae and cysts) that may be in the neck. The fistulae or cysts can become infected requiring treatment with antibiotics.

Treatment of kidney problems follows standard guidelines. If kidney problems progress to end stage renal failure, in which the kidneys can no longer function properly, dialysis and potentially a kidney transplant may be required.

References
Can I make sure my baby won't be affected with branchiootorenal syndrome before I become pregnant?

Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available. During this process, embryos are created through in vitro fertilization (IVF) by taking eggs from the mother and sperm from the father. The two are then combined in the laboratory. A few cells are removed from the embryo and are then tested to determine whether or not that specific embryo inherited the altered gene that causes BOR syndrome in that family. Then, the family can choose to only have the embryos without the altered gene transferred to create the pregnancy.

Genetic counselors are great resources to help families discuss the options for family planning. TGenetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References

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