Branchio oto renal syndrome is a genetic disorder affecting the airways, kidneys, and ears. Treatment is supportive, and surgery may be needed for structural abnormalities. Gene therapy may be a future possibility. Prenatal tests can reveal problems, and genetic counseling is recommended for those concerned about passing on the disorder.
Branchio oto renal syndrome is an unusual genetic disorder in which people can have a constellation of symptoms involving the airways, kidneys, and ears. A number of genes play a role in the expression of this condition and can vary in severity and nature, depending on which genes the patient inherits. Treatment focuses on providing the patient with supportive care, as the underlying genetic problems cannot be fixed. Early diagnosis can provide more treatment options.
The name of this condition refers to the different areas of the body involved. “Gill” is part of the airways. In patients with branchio-oto-renal syndrome, the upper airway may form incorrectly. Patients may have cysts in and on the airways and may also develop fistulas, abnormal openings between the airways and the surface of the neck. Surgery may be needed to treat these structural abnormalities.
The “oto” involves the ears. The outer ear may have dimples or skin tags, and some patients experience hearing loss or deafness. These are caused by developmental errors associated with malformed proteins. Instead of coding for the correct proteins to build ears, the deleterious genes that cause gill or kidney syndrome cause ears to develop abnormally. Often, these physical changes will be clearly visible when the baby is born.
Some patients also have kidney problems, which explains the “kidney”, although not all patients experience them. In these patients, branchio-oto-renal syndrome may be associated with absent or very small kidneys, leading to renal failure and a cascading series of problems. Dialysis, transplants, and medications can help a patient manage kidney problems.
As with other genetic conditions, branchio oto renal syndrome is not curable, although gene therapy is a possibility in the future. Gene therapy could potentially allow doctors to turn off harmful genes, allowing healthy genes to be expressed during embryonic development so people don’t develop physical problems from the genes they carry.
Patients may experience gill or kidney syndrome independently or in association with another genetic disorder. Prenatal tests can often reveal the presence of problems. This condition is dominant, which means that patients need to inherit only one set of genes involved. People with genetic disorders who are concerned about passing them on to children can meet with genetic counselors to discuss risks and their options. It is possible for a child to inherit a less severe form of the disorder.
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