Alport Syndrome - Causes, Symptoms and Treatment. MF.
Alport syndrome is a hereditary disease characterized by a progressive decrease in kidney function in combination with the pathology of hearing and vision. In Russia, the incidence of the disease among children is 17: 100,000.
Causes of Alport Syndrome
It is established that the gene responsible for the development of the disease is responsible for the long arm of the X chromosome in the zone 21-22 q. The cause of the disease is a violation of the structure of type IV collagen. Collagen is a protein, the main component of connective tissue, which provides its strength and elasticity. In the kidneys, there is a defect in the collagen of the vascular wall, in the region of the inner ear - the organ of the root, the eye - the capsule of the lens.
Symptoms of Alport Syndrome
Alport syndrome shows significant variability in external manifestations. As a rule, the disease manifests at the age of 5-10 years with hematuria( the appearance of blood in the urine).Usually, hematuria is detected accidentally when a child is examined. Hematuria can occur with the presence or absence of proteinuria( the appearance of protein in the urine).With severe loss of protein, a nephrotic syndrome can develop that is characterized by swelling, increased blood pressure, symptoms of poisoning the body with harmful products with a decrease in kidney function. It is possible to increase the number of white blood cells in the urine in the absence of bacteria.
In most patients, the stigma of disembryogenesis attracts attention. The stigma of disembryogenesis is a small external deviation that does not significantly affect the functioning of the body. These include epicanth( fold at the inner corner of the eye), deformation of the auricles, high palate, increase in the number of fingers or their fusion.
Epicant. Syndactyly.
Very often, the same stigmata of disembriogenesis are detected in diseased family members.
Hearing loss due to auditory nerve neuritis is also characteristic of Alport syndrome. Deafness often develops in boys and is sometimes detected earlier than kidney damage.
Anomalies of vision are manifested in the form of a lenticone( a change in the shape of the lens), spherofakia( spherical lens shape) and cataracts( corneal opacity).
Symptoms of kidney disease are identified, usually in adolescence. Chronic renal failure is diagnosed at the age of majority. Sometimes rapid progression of the disease is possible with the formation of terminal renal failure in childhood.
Diagnosis of Alport Syndrome
Assuming Alport syndrome can be based on pedigree data on the presence of the disease in other family members. To diagnose the disease, it is necessary to identify three of the five criteria:
• hematuria or mortality from chronic kidney failure in the family;
• presence of hematuria and / or proteinuria in family members;
• identification of specific changes in kidney biopsy;
• Hearing loss;
• congenital pathology of vision.
DNA diagnostics is also recommended now to detect a defective gene.
Treatment of Alport Syndrome
In the absence of specific treatment, the main goal is to slow the development of renal failure. Children are banned from physical activities, a balanced diet is prescribed. Particular attention is paid to sanation of infectious foci. The use of hormonal drugs and cytotoxic drugs does not lead to significant improvement in the condition. The main method of treatment remains transplantation( transplantation) of the kidney.
An unfavorable prognosis of the course of the disease, which is characterized by the rapid development of terminal renal failure, is most likely given the following criteria:
- male sex;
is a high concentration of protein in the urine;
- early development of renal dysfunction in family members;
- Hearing loss.
In the detection of isolated hematuria without proteinuria and hearing impairment, the prognosis of the course of the disease is favorable, renal failure is not formed.
Physician therapist, nephrologist Sirotkina EV