What is Alport syndrome?

Alport syndrome is a hereditary disease, which is directly characterized by a gradual decrease in kidney function, coupled with the pathology of hearing and even vision. To date, in the territory of our country, this type of ailment among the child (predominantly) contingent is approximately 17: 100,000.

Main reasons

According to experts, Alport syndrome arises due to deviations in the gene, which is located in the long arm of the X chromosome in the so-called zone 21-22q. In addition, the violation of the integral structure of the so-called type 4 collagen is also the cause of this ailment. Under collagen is understood in science such a protein, which is a direct component of connective tissue, ensuring its elasticity and continuity.

Symptoms

Alport syndrome, as a rule, for the first time makes itself felt in children aged from five to ten years and manifests itself in the form of hematuria (finding blood in the urine). Most often, this diagnosis is detected randomly, that is, with a regular examination of a specialist. In addition, Alport syndrome manifests itself in the form of the so-called stigmas of disembryogenesis. These are relatively small deviations, which do not play a special role in the functioning of the body's basic systems. Physicians mark epicanth (a small fold at the inner corner of the eye), a high sky, a slight deformation of both auricles and other signs. Consecutive hearing loss is also a sure sign of this ailment, and hearing loss is more often diagnosed in boys. All of the above symptoms are most often found in adolescence, while common chronic renal failure does not appear until after adulthood.

Diagnosis

Alport's syndrome in children is usually diagnosed on the basis of data on the presence of this kind of ailment in other family members. For example, to confirm the disease, it is sufficient to meet three of the five criteria listed below:

• Hearing loss;
• Deaths from chronic kidney failure of close relatives;
• Confirmation of hematuria in family members;
• Pathology of vision;
• The presence of specific changes in kidney biopsy.

Treatment

In the absence of specific therapy, doctors in the first place should slow the development of renal failure. With such a diagnosis, as Alport's disease, children are strictly forbidden physical activity, they are prescribed a balanced diet. Important attention is paid to sanation of so-called infectious foci. Use in the treatment of cytostatics and various kinds of hormonal drugs contributes to the improvement of the condition. However, most often kidney transplantation is chosen as the preferred method of treatment. It should be noted that in detecting hematuria without significant hearing loss, the overall prognosis of the course of the disease is somewhat more favorable. In a situation of this kind, renal failure is very rarely diagnosed.