Kidney Health and Diseases
Polycystic Kidney Disease
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 mode of inheritance 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%.
According to the results of different series, autosomal dominant polycystic kidney disease is detected in one of 400 to 1000 live births. It occurs equally in men and women.
Since cysts develop in other organs besides the kidneys and other pathologies belonging to different systems can be seen in this disease, it is considered a systemic disease.
What are the Symptoms of Polycystic Kidney Disease?
Some of these patients may have no complaints or signs. 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: Patients with polycystic kidney may complain of pain. Pain is more common in patients with an enlarged kidney size due to the excessive 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: From time to time, bloody urination may be encountered in polycystic kidney patients. 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 in the urine may occur 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 can sometimes interfere with the flow of urine in the urinary tract, requiring emergency 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, in which there 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 well treated as it accelerates the progression of kidney failure.
How is Polycystic Kidney Disease Diagnosed?
Cysts in the kidney can be detected by ultrasonography, computed tomography or magnetic resonance methods. The most harmless method is ultrasonography. There is no need to use the substance that is harmful for kidney patients, it can be used easily by pregnant women and children. However, it cannot differentiate it very well from simple cysts that are frequently seen in advanced ages. Especially if there is no other person with the disease in the family, the reliability of ultrasonography decreases. It would be more accurate to perform genetic analysis on these people.
Persons under the age of 30 who have a family history of polycystic disease and have 2 or more cysts in one or both kidneys should be followed up in terms of genetically transmitted polycystic disease. Between the ages of 30-60, at least two cysts in both kidneys, and after 60 years of age, at least four cysts in both kidneys are diagnostic. A kidney transplant may be necessary in some cases, according to gene analysis. 60% of patients enter end-stage renal disease. Kidney transplantation is the best treatment for people with polycystic kidney disease in end-stage renal disease.
What are the Diseases Developing Due to Polycystic Kidney Disease?
In addition to kidney cysts, cysts in other organs, especially in the front of the liver, aneurysms (bubbles) in the brain, pockets in the large intestine, heart valve diseases and hernias are quite common in these patients. In those with PKD1 gene defect, the progression to end-stage renal disease is seen at an earlier age, such as 50 years on average. In PKD2 gene disorder, the average age of dialysis is 74 years. As a result of this disease, men are more unlucky in terms of the age to enter dialysis and the disease progresses faster.
The course of the disease is also rapid in women who have been pregnant more than 3-4 times and have high blood pressure. High blood pressure is a factor that facilitates the progression to kidney failure in these patients. For this reason, blood pressure control of patients is of great benefit in slowing the course of the disease.
Hypertension in Polycystic Kidney Patients
In patients with hypertension, the development of renal failure is faster and cardiovascular problems, which are the most common cause of death, are more common. Therefore, it is important to lower blood pressure in these patients. Since the underlying cause of hypertension is increased activity of the renin-angiotensin-aldosterone system, the use of angiotensin converting enzyme inhibitors or angiotensin receptor blockers is preferred. It is aimed to decrease the blood pressure below 130/80 mm Hg. For this purpose, when necessary, combination with two or more drugs is made.
Can Genetic Tests Be Performed in the Definitive Diagnosis of Polycystic Kidney Disease?
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 whose family has kidney failure due to polycystic kidney disease, it should be known for certain whether this disease will develop in the future.
Also, someone with a family history of the disease may want to know for sure if they carry this gene. 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.
How Does Kidney Failure Pass?
Several methods are used for the treatment of kidney failure. The type of treatment an individual needs will depend on the cause of the kidney failure.
One of the methods used in kidney failure is dialysis. Dialysis performs the function of the kidneys by using a machine to filter the blood and purify it of toxic elements.
Depending on the type of dialysis used, a large machine or portable catheter bag may be used. A low-potassium, low-salt diet should be followed along with dialysis. Dialysis does not cure kidney failure, but attending sessions regularly increases life expectancy.
Another treatment option for kidney failure is kidney transplantation. A transplanted kidney will function normally and eliminate the need for dialysis.
However, the waiting period for a kidney donation compatible with the patient’s body is usually long. If there is a living donor, the process can go faster. Immunosuppressive drugs are used after surgery to prevent the body from rejecting the new kidney.
These drugs have their own and sometimes severe side effects. Transplant surgery may not be the right treatment option for every case. It is also possible for the surgery to fail.
Nutrition in Kidney Failure
There is no special diet for people with kidney failure. Items to be considered during nutrition generally depend on the stage of kidney disease and the patient’s personal health.
However, a few general recommendations can be made. Sodium and potassium should be limited. Both should be aimed at consuming less than 2,000 milligrams per day. Phosphorus, like sodium and potassium, should be consumed in a limited way. It is best to stay under 1,000 milligrams a day.
Reducing protein consumption is important in early and moderate kidney disease. However, in end-stage renal disease, more protein can be eaten depending on the doctor’s recommendations. Again, the doctor may recommend avoiding certain foods.
Diabetes is the most common cause of kidney failure. This is called diabetic nephropathy. Uncontrolled high blood sugar can damage the kidneys, and this damage can worsen over time. Kidney damage caused by diabetes is irreversible. But managing blood sugar and blood pressure can help reduce damage to the kidneys. It is also important to take the prescribed medications for this. Regular screenings are done to monitor kidney failure in patients with diabetes.
Alcohol use forces the kidneys to work harder than they are. In case of kidney failure, alcohol that is not metabolized in the system continues until it is dialyzed. Beer and wine contain large amounts of phosphorus and, if not filtered, can cause serious heart problems and even death. However, most hard liquors do not carry the same risk. In the case of late-stage kidney disease and kidney failure, alcohol consumption may be limited by the doctor, and in general it may be best in some cases to exclude alcohol from the diet altogether. In the case of kidney failure, alcohol also damages other organs more and can more easily lead to liver problems.
Polikistik Böbrek Hastalığı
Sık Sorulan Sorular
Polikistik böbrek hastalığı olan bir ailedeki hastalık belirtisi taşımayan çocukların polikistik böbrek hastalığı açısından araştırılması ailenin isteğine bırakılır. Fakat bu çocuklarda yıllık kan basıncı kontrolu ve idrar tetkiki önerilir. Yüksek tansiyon saptanırsa ya da polikistik böbrek hastalığı bulguları ortaya çıkarsa, o zaman böbrek ultrasonografisi ile böbrek kistlerinin varlığı araştırılmalıdır.
Bu hastalıkta idrar yolu enfeksiyonu riski normal kişilere göre daha yüksektir. İdrar yaparken yanma, ağrı ve ateş gibi şikâyetler ortaya çıkarsa gelişigüzel ilaç alınmamalı, mutlaka bir hekime başvurmalıdır. Bazı antibiyotiklerin böbrek fonksiyonlarını olumsuz yönde etkilediği bilinmektedir. Hekim, idrar tetkiki ve idrar kültürü sonucuna göre uygun tedaviyi belirleyecektir. Hastaların idrar yolu enfeksiyonu riskini azaltmak için bol sıvı almaları önerilir.
Spor ve egzersiz yapmanın çok sayıda olumlu etkilerinin olduğu bilinmektedir. Bu sayede kilo alımı önlenebilir. Kalp ve damar hastalığı riski azalır. Polikistik böbrek hastalarının böbrek bölgesine darbe gelme riski yüksek olan sporları (karate, judo ve güreş gibi) yapmaları önerilmez. Bunların dışındaki sporları yapmanın ve/veya düzenli egzersiz ve yürüyüş yapmanın yararı vardır.
Polikistik böbrek hastalığında kesinlikle böyle bir tedavi yapılmamalıdır. Bu şekilde yapılan işlemler sonrasında kistlerin tekrar oluşabildiği bilinmektedir. Bununla birlikte, nadir bir durum olarak çok büyük hacimlere ulaşıp etrafa bası yapan kistler saptanırsa ya da iltihaplanan bir kist ilaç tedavisi ile düzelmiyorsa, soruna yol açan kist boşaltılabilir.
Polikistik böbrek hastalığı olanlar gebe kalabilirler. Fakat yüksek tansiyonu ve böbrek yetersizliği olan annede, gerek kendinde gerek bebekte komplikasyon riski yüksektir. Böyle hastalarda gebelik sırasında kan basıncında daha fazla yükselme ve böbrek fonksiyonlarında daha fazla kötüleşme görülebilir. Ayrıca böyle gebeliklerde ölü doğum, erken doğum veya çocukta gelişme bozukluğu olabilir. Kan basıncı kontrol altında olan ve böbrek yetersizliği olmayan hastalar arzu ederlerse gebe kalabilirler. Gebe kalmayı arzu eden hastalarda, bu hastalığın %50 olasılıkla çocukta da gelişebileceği unutulmamalıdır.