Polycystic kidney disease is the most common hereditary kidney disease. This disease, which was previously known as "adult type polycystic kidney disease", is now also referred to as "autosomal dominant polycystic kidney disease" considering the mode of transmission.
What is Polycystic Kidney Disease?
There are various diseases that lead to the development of cysts in the kidneys. Some of these diseases are inherited. Others develop unrelated to heredity. Polycystic kidney disease is the most common inherited kidney disease. In fact, the more scientific name of this disease is 'autosomal dominant polycystic kidney disease', in which the inheritance pattern is also indicated.
As a feature of the inherited form of this disease (autosomal dominant), if one of the parents has this disease, the risk of transmission to the child is 50%.
Autosomal dominant polycystic kidney disease is detected in one of 400 to 1000 live births, according to the results of different series. It occurs equally in men and women. developing kidney failure. Polycystic kidney disease is the cause of kidney failure in 5-10% of patients who need dialysis treatment due to kidney failure or who have had a kidney transplant. Therefore, it is an important disease in terms of human and public health. In addition, since it is a hereditary disease, it should be kept in mind that it can be transferred to future generations.
What are the Symptoms of Polycystic Kidney Disease?
Some of these patients may not have any complaints or findings. In some patients, the disease may not be noticed for life. In some patients, various complaints and findings may occur as age progresses. Among these, the most common ones are flank pain, bloody urination, urinary tract infection findings, kidney stone formation and high blood pressure (hypertension).
- Pain: Polycystic kidney patients may complain of pain. Extreme Pain is more common in patients with an enlarged kidney size due to the large number of cysts. As a result of the growth of the cysts, pressure on the surrounding tissues may cause pain. In addition, bleeding into the cyst and cyst infections can also cause pain. In addition to these, there may be pain due to a stone that may develop in this disease.
- Bloody urination: Patients with polycystic kidney may occasionally experience bloody urination. Sometimes it may be accompanied by pain. The cause of bleeding in the urine may be a crack in the wall of a cyst. In addition, bleeding may occur in the urine due to urinary tract infection or stone.
- Kidney stone formation: The risk of stone formation in the urinary tract increases in polycystic kidney disease. These stones may sometimes give no symptoms and may not cause any problems. Sometimes it can cause pain, bleeding in the urine and urinary tract infections. Kidney stones sometimes obstruct the flow of urine in the urinary tract and may require urgent treatment.
- Urinary tract infection: The risk of urinary tract infection increases in polycystic kidney disease. Most of these infections are in the form of infections of the lower urinary tract, namely the bladder. However, pyelonephritis, which is inflammation of the kidney tissue, or infections of cysts can also be encountered.
- Hypertension (high blood pressure): High blood pressure is a common problem in polycystic kidney disease. Although high blood pressure can sometimes cause complaints such as headache and palpitation in patients, it often does not give any symptoms. High blood pressure should be treated well as it accelerates the progression of kidney failure.
Can Cysts Form in Other Organs in Polycystic Kidney Disease?
Except for kidney cysts Cysts may develop in other organs as well. The most common extrarenal finding of the disease is liver cysts, which are found up to 50%. Liver cysts originate in the bile ducts. It is more common in women. As age progresses, the number and size of liver cysts increase. Cysts can become infected. Apart from the liver, cysts can also be seen in other organs such as the spleen and pancreas. has effects. In addition, liver cysts are more common in women who are on estrogen therapy or taking birth control pills. Despite all these, liver failure is not encountered even in patients with severe hepatic cysts. As age progresses, the number and size of liver cysts increase. Rarely, infection of liver cysts may be encountered. Apart from the liver, cysts can also be seen in the spleen and pancreas, less frequently.
What are the symptoms other than the development of cysts in the organs in Polycystic Kidney Disease?
In these patients, other problems may be seen in addition to the development of cysts in other organs. The main ones are disorders in the heart valves, aneurysms (bubbles) in various vessels (especially in the brain vessels), diverticula (glove-finger-like enlargements in the intestinal wall) and hernia (hernia). movement disorders. These disorders often do not cause any complaints. However, they can be detected by an examination called echocardiography. Most of the time, they are not expected to cause a problem.
- Aneurysms (Bubbles) in the Brain Vessels: In patients with polycystic kidney disease, bubbles called aneurysms may occur rarely in the cerebral vessels. These aneurysms have a very low risk of rupture and bleeding. This risk is higher in people with high blood pressure and those who smoke. If a family member with polycystic kidney disease has an aneurysm, there is a risk that other members will also have it. Despite this serious problem that can be seen in polycystic kidney disease, it is not recommended to investigate all patients for the presence of these aneurysms. Because the possibility of aneurysm development is rare. Even if a patient has an aneurysm, the risk of rupture is low. Considering that such aneurysms can develop even in people without any disease, it is understandable why research is not needed. On the other hand, it is recommended to investigate a patient with an aneurysm in a family member in this regard. can. This often does not lead to any complaints. It is not recommended to investigate every patient in this respect.
- Hernias (Hernias): The risk of inguinal or umbilical hernia is slightly higher than normal in polycystic kidney patients.
How to Diagnose Polycystic Kidney Disease?
Diagnosis of polycystic kidney disease is one of imaging methods. put using. Kidney cysts can be demonstrated by ultrasonography, computed tomography or magnetic resonance imaging methods. Ultrasonography, which is cheaper and simpler, is preferred for diagnosis.
It is possible to definitively diagnose polycystic kidney disease with gene analysis. However, gene analysis is not recommended for every patient. There are various reasons for this. First of all, although gene analysis can show whether the patient carries the defective gene, that is, whether he is sick or not, it does not give an idea about the course of the disease.
Gene analysis can be performed in cases where the diagnosis must be known. For example, in a young person who wants to donate a kidney to a relative who has kidney failure due to polycystic kidney disease in his family, it should be known for certain whether this disease will develop in the future. A mother or father with polycystic kidney disease may want to find out if their unborn child carries the same gene. In such cases, before resorting to gene analysis, it should be discussed in detail what kind of future problems knowing that a person has a defective gene may cause in the future. It is possible to definitively diagnose However, gene analysis is not recommended for every patient. There are various reasons for this. First of all, although gene analysis can show whether the patient carries the defective gene, that is, whether he is sick or not, it does not give an idea about the course of the disease.
Gene analysis can be performed in cases where the diagnosis must be known. For example, in a young person who wants to donate a kidney to a relative who has kidney failure due to polycystic kidney disease in his family, it should be known for certain whether this disease will develop in the future. A mother or father with polycystic kidney disease may want to find out if their unborn child carries the same gene. In such cases, before applying for gene analysis, it should be discussed in detail what kind of problems the person carrying the defective gene may cause in the future. However, annual blood pressure control and urinalysis are recommended in these children. If high blood pressure is detected or if signs of polycystic kidney disease occur, then the presence of kidney cysts should be investigated by renal ultrasonography. decrease can be seen. In patients with high blood pressure, the development of kidney failure is faster, and cardiovascular problems are more common. Therefore, great importance should be given to lowering blood pressure in these patients. For this reason, it is not possible to predict how the disease of another patient will progress by looking at the course of a patient's disease in the family.
Some patients may have pain complaints from time to time. Pain can be due to various reasons. Usually, pain occurs as a result of the pressure of the cysts on the surrounding tissues. As a pain reliever, "non-steroidal anti-inflammatory drugs", that is, popular
Read: 0
