Pendred's syndrome is a hereditary disease characterized by congenital deafness of bilateral character. It can be combined with vestibular disorders and an increase in the size of the thyroid gland. In some situations, it is supplemented by hypothyroidism - a decrease in the activity of the thyroid gland. This syndrome leads to congenital deafness in about 7.5% of cases.
Causes of
The mutation in the SLC26A4 gene located on chromosome 7 can lead to the appearance of the disease. Since this gene is recessive, the child must receive two abnormal genes - from both parents. In this case, they are carriers of only one pathological gene, therefore, the symptoms of the disorder do not arise.
But in most cases there are no manifestations that indicate the presence of a gene. Therefore, it is difficult to predict this violation.
How Pendred's syndrome is diagnosed
The main complaint of a patient with this disorder is progressive deterioration of hearing, which subsequently leads to deafness. This is due to anomalies in the structure of the inner ear and a violation of the perception of sound waves.
Another complaint is a deviation in the thyroid gland, which is accompanied by problems with digestion of iodine. As a consequence, goiter develops, which increases the incidence of thyroid cancer.
To be diagnosed, the otolaryngologist and geneticist must examine the child. They must assess the severity of the hearing and the level of its loss. Therefore, specialists need to find out when the hearing loss began and how the process was going on.
A typical manifestation of an ailment is a smaller number of curls in the cochlea. This structure is responsible for converting mechanical signals into electrochemical signals, which then enter the brain.
A snail of healthy people contains two and a half turns. In this case, patients with this disorder may have only one and a half turn. But not all people with this pathology have anomalies in the structure of this element.
Another manifestation of the disease is the widening of the vestibular canal. It is a bone passage from the vestibular apparatus located in the inner ear to the brain. A tube filled with liquid is present in the channel. It is called the endolymphatic duct. At the end of this tube is an endolymphatic sac. In patients with this disorder, the dimensions of these elements are increased.
As a rule, doctors do not check the hormonal status of children with a large thyroid gland. The level of hormones often remains normal. If there are suspicions that the organ is enlarged for other reasons, the corresponding tests will still be appointed.
Prevalence of
An abnormal gene that provokes the development of the syndrome is detected in 10% of patients with genetic hearing impairment.
How to cure
This disease is hereditary and affects the hearing and thyroid gland. That's why the help is rendered by several doctors at once: a geneticist, a speech therapist, an otolaryngologist, an endocrinologist.
To reduce the speed of hearing loss, people with this diagnosis need to protect their head from damage. Doctors do not advise to engage in contact sports. It is also recommended to avoid situations in which there is a threat of receiving barotrauma.
How the auditory implant works
You can not recover from this syndrome. In this case, specialists select corrective therapy. It is very important for children to begin treatment as early as possible. Thanks to this, it is possible to form communication skills - in particular, to learn the language of gestures.
Many people with this diagnosis completely lose their hearing. In such situations, the implant must be inserted into the inner ear. This is done promptly. As a result, a person can understand speech. With the help of this procedure it is possible to achieve a full-fledged human life.
Children after 12 months are already allowed to perform such an operation. If a patient develops goiter, it is very important for him to undergo a systematic examination.
In our video you will learn more about implantation:
Pendred's syndrome is a serious hereditary disease, which is characterized by an increasing hearing loss. To stop the development of an abnormal process, it is very important to consult a doctor in a timely manner. Sometimes the hearing can be improved by surgical intervention.