The polycystic kidney disease is an inherited condition in which groups of cysts develop primarily in the kidneys, causing enlargement and loss of kidney function in a few years. It is a chronic disease that leads to kidney failure.
Unfortunately, these patients may also develop cysts in the liver. Also, patients who have this condition have an increased risk of developing an aneurysm.
The reality is that many people can live many years with the disease and have no symptoms, at least until the time the cysts grow in size and the first symptoms appear.
What are the main symptoms of the disease:
- abdominal pain,
- the presence of blood in the urine,
- the feeling of frequent urination,
- repeated urinary tract infections,
- kidney stones,
- back pain,
- joint pain,
- some nail deformities occur.
Mutations of either PKD1 or PKD2 gene cause polycystic kidney disease. Patients with PKD2 gene mutations, especially women, have a slightly more severe form of the disease than people with PKD1 mutation. However, doctors say that there are patients who, although they have not inherited the disease, can still develop it, but there is practically a form of acquired polycystic kidney disease. It occurs in people who have kidney failure or who have had major kidney problems and have already had dialysis.
There are two types of genetic polycystic kidney disease in the literature:
- Autosomal dominant polycystic disease – the condition is determined by a single defective gene that is inherited from the parents. The first symptoms appear only in adulthood, even though cysts may be present from childhood. Cysts can also invade other organs, not just the kidneys.
- Autosomal recessive polycystic disease – it is less common, and the symptoms are felt since childhood.
The diagnosis is established by the specialist nephrologist after investigations such as: ultrasound ultrasound, CT (computerized tomography), but also MRI. Also, blood tests will be performed. At the same time, the diagnosis can also be made with the help of a genetic test to detect PKD1 and PKD2 gene mutations.
What is the treatment:
Treatment of polycystic kidney disease primarily involves treating symptoms and possible complications.
In the case of autosomal recessive renal polycystic disease, antibiotics can control urinary tract infections, and healthy nutrition is very important. Patients who develop renal failure should undergo dialysis or a kidney transplant.
In the case of autosomal dominant polycystic kidney disease, treatment may improve the symptoms of the disease. Thus, drugs will be prescribed that will improve the pain of the patients. Sometimes, the cysts are reduced with the help of the operation. Very important is the control of blood pressure, medications will be taken to control high blood pressure but a strict diet will be followed. Basically, with a good blood pressure control, the risk of aneurysm decreases to which these patients are subjected. Unfortunately, when the disease progresses it will reach either dialysis or kidney transplant.