Alport syndrome or hereditary nephritis is a genetic disease that is characterized by renal pathology, deafness and vision disorders. It is a disease that is inherited from parents and which damages the small blood vessels in the kidneys. The faster detection of the disease allows the efficient control of the evolution and avoiding complications. The condition is quite rare and affects mainly men. But women can transmit the affection of children, even if they do not show symptoms of the disease and do not have an active form of the disease.
What Causes Alport Syndrome?
As I said, hereditary nephritis is a genetic condition that is inherited and is caused by a mutation of a gene that has the role of encoding the structure of a protein called collagen. It is the foundation of connective tissue (found throughout the body, especially at the auditory, optic and renal levels).
The risk factors for the onset of Alport syndrome or hereditary nephritis are:
- kidney disease in the phase ends in male relatives;
- family history with Alport syndrome;
- hearing loss before age 30;
- nephritis etc.
What are the symptoms of hereditary nephritis?
The disease damages the small blood vessels in the kidneys, called glomeruli, which are used to filter waste. No symptoms appear at the onset of the disease. But the progressive destruction of glomurels leads to the appearance of blood in the urine and may decrease the effectiveness of the waste filtration system in the kidneys. There is a progressive loss of kidney function. In women, the disorder manifests itself in a mild form and sometimes without symptoms. But in men the symptoms appear and worsen rapidly. These include:
- abnormal color of urine;
- swelling of the ankles, feet and soles;
- the presence of blood in the urine;
- diminution or loss of vision, more frequent in men;
- hearing loss (especially in men);
- swelling of the area around the eyes, etc.
The evolution of the disease can be extremely rapid and can progress to the terminal phase from a rather early age (between adolescence and up to 40 years).
What complications can occur?
It is important to go to the doctor as soon as you notice the first signs of this disease. If the symptoms and problems associated with hereditary nephritis are not controlled in time, permanent and irreversible side effects may occur:
- chronic kidney failure;
- vision loss;
- fatal kidney disease;
- permanent deafness etc.
How is Alport Syndrome treated?
The purpose of the treatments includes monitoring and controlling the evolution of the disease, as well as treating or ameliorating the symptoms. The most important thing in controlling the condition is to keep the blood pressure under control. Treatment of chronic renal failure may be needed to control hereditary nephritis. This includes dietary changes, fluid restrictions and other treatments. If it is in an advanced stage, dialysis or kidney transplantation is used. Cataract correction surgery (a disease associated with the disease) may be a necessary measure that the doctor may recommend.
Unlike the others, hearing loss seems to be permanent and irreparable, if it occurs. People who come to have this problem are directed to specialists who will learn sign language and effective guidance on its social integration. Genetic counseling and investigations may be necessary as it is a hereditary condition.
Can hereditary nephritis be prevented?
Since it is a genetic disease, which is transmitted by hereditary route, it cannot be prevented. But knowing the risk factors and informing the doctor about the family history of this syndrome helps doctors to detect and control the disease at an early stage, so that the child can lead a normal life.
Tags Genetic diseases Diseases sight