What is Branchiootorenal Spectrum Disorder or BORSD?
The Branchiootorenal Spectrum Disorder is a rare genetic condition that is an autosomal dominant genetic condition. This is a condition that can have different severity on different people even if they happen to belong to the same family. People suffering from Branchiootorenal Spectrum Disorder or BORSD have ear tag or pits in the region of their outer ear. They are also known as Preauricular pits. Such patients can also have abnormal passages beginning in their throats that can go to the outside surface in the region of their necks. Branchiootorenal Spectrum Disorder or BORSD is known as branchial fistulas or cysts in the branchial region. The patients in certain cases can also have a malformation in the region of their inner or middle ear. Such patients might have to suffer a loss of hearing abilities and also abnormalities in their kidneys (1).
Symptoms of Branchiootorenal Spectrum Disorder or BORSD
One of the most common symptoms of Branchiootorenal Spectrum Disorder or BORSD is that the patient in most of the cases has a challenge in proper hearing. This could be due to a blockage of the sound waves or damage in the nerves. Often both reasons could lead to a loss of hearing ability of the patient. The resulting deafness in the patient could be a progressive or even a non-progressive one. There can be other substantial abnormalities like cartilage outgrowths and even pits in their outer ear.
Branchiootorenal Spectrum Disorder or BORSD patients can also have a small outer ear with a cupped appearance (1). The ear canal can also have an upward narrow looking slant.
The kidney abnormalities that can be found in the Branchiootorenal Spectrum Disorder can also go up to different extents. In some of the cases, they happen to be manageable, whereas there can be conditions when the renal problems can become truly severe. In milder cases, it is the shape of the kidneys that gets affected.
However, in severe cases, there can be duplication of the collecting mechanism of the kidneys or worse still, a failure of either or both the kidneys.
There can be other symptoms of the Branchiootorenal Spectrum Disorder where the tear ducts could be usually narrow. This can affect the normal tear flow from the eyes, a narrow long face, and formation of cleft palate and also paralysis of some of the facial muscles.
Causes of Branchiootorenal Spectrum Disorder or BORSD
The cause of Branchiootorenal Spectrum Disorder is considered to be a mutation of the SIX5, EYA1, and SIX1 genes (1). The exact reasons for this mutation are still not known and hence advanced researches are being conducted currently. This is an autosomal dominant disorder. This means that a single copy of the mutated gene if passed from even one of the parents to the child, then the child will be suffering with the condition. It has often been seen that even if the mutated gene has been dormant in one of the parents and it gets passed to the child, even then the child could be affected with the condition. In many other cases, it has been seen that the mutation of the genes could happen in the baby alone. Often the mutation takes place in the cells of the sperm or the ovary. In this case, the mutated gene will not be inherited from the parents. Branchiootorenal Spectrum Disorder or BORSD is a disorder that could affect both male and female infants. Both the genders are equally susceptible to acquire the condition. For parents who have this syndrome, the risk of passing on the affected genes to the child is fifty percent for every case of pregnancy.
Epidemiology of Branchiootorenal Spectrum Disorder or BORSD
Branchiootorenal Spectrum Disorder is a really rare genetic disorder that is found in very few people all over the world. According to a rough estimate, nearly one child in every forty thousand children acquires this syndrome. Nearly 2 to 3% of children who has acute deafness suffer from Branchiootorenal Spectrum Disorder or BORSD. No single region can be pointed out as people of a certain ethnic group being more prone to acquiring the syndrome. Cases of the condition have been reported from various parts of the world (1, 2).
Diagnosis of Branchiootorenal Spectrum Disorder or BORSD
The diagnosis of Branchiootorenal Spectrum Disorder or BORSD is done on the basis of presence of two or three symptoms in the child. Often it can be so that a child might have three or more symptoms but there might not be a single case of another person being affected by Branchiootorenal Spectrum Disorder in the family. Even then the condition is affirmed.
An evaluation of the hearing abilities of the patient is used for diagnosis. In certain situations, imaging of the temporal bone is also done so that an identification of the condition can be done. Abnormalities in the kidneys can be understood through the use of urinalysis and other kidney function tests. Ultrasonography and other forms of imaging are also used for the task to understand the exact extent and nature of the condition. The type of gene mutation can be very different in different contexts and in different patients. The difference in mutation can affect the nature of the complexities and the extent of the syndrome in the patient (2).
Treatment of Branchiootorenal Spectrum Disorder or BORSD
Treatment for Branchiootorenal Spectrum Disorder or BORSD must be given as soon as the problem has been diagnosed. The treatment can be rather prolonged in its tenure. Medical rehabilitation and other hearing aids might be required for a few years at a stretch. In certain condition, if there is a defect in the formation of the ear structure, surgery can come up as a possible solution for it. In certain cases when the sinuses get infected due to the cysts or the fistulas, antibiotics can also be given to manage the situation. Close correspondence with nephrologists must be maintained and the problems of the kidney must be watched closely. In certain condition, surgeries can be of major help. In other cases, dialysis can be provided to the patient (1).
There are many other forms of treatment which are supportive in nature and are provided so that proper management of the Branchiootorenal Spectrum Disorder or BORSD symptoms can be done. In this context, it is important that a close and continuous watch is maintained on the patient. Even if all the Branchiootorenal Spectrum Disorder or BORSD symptoms are under control and there is no problem as such the patient must be taken for tests and regular checkups every year for the purpose of precaution. More information on the domain is being sought by the medical fraternity through advanced researches so that better support can be provided to the caregivers and the patients alike in the future.