General Information About Alport Syndrome
Disease Details and Frequently Asked Questions
It is a hereditary disease that leads to the deterioration of the structure of the kidney filters (glomeruli), causing them to leak blood, due to a defect in the genes responsible for producing the Type 4 collagen protein, the building block of cells.
Since the same type of collagen is also found in the inner ear and the eye, the disease typically causes high-frequency hearing loss (deafness) and structural deformities in the lens of the eye.
The earliest and clearest symptom of the disease is the presence of blood in the urine (hematuria) during childhood. In later stages, protein leakage in the urine, high blood pressure, and edema (swelling) in the body begin.
The vast majority of cases are passed from mother to son linked to the X chromosome. Because of this, the disease runs a much more severe course in males, while females are generally carriers showing mild symptoms.
Urinalysis, hearing tests, eye examinations, and evaluation of family history aid in the diagnosis. For a definitive diagnosis, a kidney biopsy or genetic DNA testing is performed.
There is no genetic cure for the syndrome. The aim of treatment is to slow down kidney damage. Blood pressure regulating drugs (ACE inhibitors) are used. In advanced stages, dialysis or kidney transplantation is life-saving.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
