Alport syndrome is a hereditary disease that is directly characterized by a sequential decline in kidney function, coupled with a pathology of hearing and even vision. At the moment, in our country this kind of ailment among the children (mainly) contingent is approximately 17: 100 000.
Main reasons
According to experts, Alport syndrome occurs due to abnormalities in the gene, which is located in the long arm of the X chromosome in the so-called zone 21-22q. In addition, a violation of the integral structure of the so-called collagen type 4 is also the cause of this ailment. Collagen is understood in science as a protein that is a direct component of connective tissue, providing its elasticity and continuity.
Symptoms
Alport syndrome, as a rule, first makes itself felt in children aged five to ten years and manifests itself in the form of hematuria (the presence of blood in the urine). Most often, this diagnosis is detected randomly, that is, during the next examination with a specialist. In addition, Alport syndrome manifests itself in the form of the so-called stigma of dysembryogenesis. These are relatively small deviations that do not play a special role in the functioning of the basic systems of the body. Doctors note an epicant (a small fold at the inner corner of the eye), a high palate, a slight deformation of both auricles and other signs. Consistent hearing loss is also a sure sign of this ailment, and hearing loss is much more often diagnosed in boys. All of the above symptoms are most often found in adolescence, while widespread chronic renal failure makes itself felt only at the age of majority.
Diagnosis
Alport 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 ailment, it is enough to meet three of the five criteria listed below:
- hearing loss;
- cases of mortality from chronic renal failure of close relatives;
- confirmation of hematuria in family members;
- pathology of vision;
- the presence of specific changes during a kidney biopsy.
Treatment
In the absence of specific therapy, doctors should first slow down the development of renal failure. With such a diagnosis as Alport disease, children are strictly forbidden to exercise, they are prescribed a balanced diet. Important attention is paid to the rehabilitation of the so-called infectious foci. Use in the treatment of cytostatics and various kinds of hormonal drugs helps to improve the condition. However, kidney transplantation is most often prescribed as the preferred treatment. It should be noted that when hematuria is detected without significant hearing impairment, the overall prognosis of the course of the disease is somewhat more favorable. In a situation of this kind, renal failure is extremely rarely diagnosed.