Diagnosis Disease Alport syndrome

Alport syndrome (hereditary nephritis) is a hereditary disease, in which kidney function is bad and there is hematuria (blood in urine), sometimes accompanied by deafness and disorders of the eye.

CAUSE
Alport syndrome is caused by abnormalities of genes on chromosome X. Women who have this gene on one chromosome Xnya usually show no symptoms, although the kidney is less efficient compared with normal kidneys. Despite having no symptoms, this woman could pass these genes to their children. Men with this gene usually develop kidney failure at age 20-30 years, because men have only one X chromosome and so can not compensate for this chromosome abnormality to other chromosomes.

SYMPTOMS
Many patients have no symptoms other than hematuria, but urine may also contain some protein, white blood cells and casts (small clumps). Alport syndrome can affect organs other than kidneys. Hearing loss often occurs usually in the form of an inability to hear sounds of higher frequencies.

Cataracts can also occur, although less frequently than the hearing loss. Abnormalities in the cornea, lens or retina sometimes causing blindness. Other disorders occur in several neurological (polyneuropathy) and thrombocytopenia (platelet count less in the blood). High blood pressure can occur.

DIAGNOSIS
Diagnosis based on symptoms and results of urinalysis (urine analysis). Audiometric examination showed presence of deafness. Renal biopsy shows chronic glomerulonephritis with images that are typical for Alport syndrome.

TREATMENT
The goal of treatment is to monitor and control the progression of the disease and treating its symptoms. The important thing is to control high blood pressure. To cope with chronic renal failure can be made dietary changes and restrictions on fluid intake. If it has reached an advanced stage, performed dialysis or kidney transplantation.

Cataracts are treated with surgery to remove cataracts. Deafness that occurs may be settled. This can be helped by using hearing aids.

PREVENTION
Counseling and genetic counseling is usually necessary to determine whether there is the possibility that the same thing happened later in their offspring.