What is PKD?

What is Polycystic Kidney Disease?

PKD is a hereditary disease affecting both kidneys, in which cysts filled with liquid develop gradually and throughout the patient's entire life. These cysts lead to progressive enlargement of the kidneys and, at the same time, to reduced function of the kidney tissue. In addition, though to a lesser degree, neighbouring organs such as the liver and pancreas may be affected. However, as a rule, the cysts cause less harm when they occur in these organs than they do in the kidneys.

How is PKD inherited?

PKD is one of the most common hereditary diseases in Man: it affects some 10,000 persons in Switzerland and more than 6 million worldwide. The probability of passing the disease on to one's child is 50%. The disease never skips a generation. It may occur also when no other members of the family are affected, indicating that a gene has become defective immediately after conception.

How do the cysts arise?

Single cysts begin to grow when the balance between the formation and death of kidney cells is disturbed. This imbalance leads to an excess of cells, which eventually protrude into the tubules of the kidney. These protrusions develop into closed cysts in which the cell-generated fluid collects. Many questions as to the exact mechanism of cyst formation remain to be clarified.

What are the symptoms of PKD?

PKD can remain asymptomatic for a very long time. From the 30th to the 40th year of life pain may begin to be felt in the renal and dorsal regions, as well as in the flanks and groins. Cysts or the urinary tract may become infected. The urine may turn red as a result of bleeding cysts. Blood pressure may rise. In the late stages of the disease there may be an irreversible loss of kidney function, which can be treated only by dialysis or a kidney transplant. The average age at which total loss of kidney function occurs is about 50 years, though individual cases may vary greatly.

How is PKD diagnosed?

The presence of cysts may be ascertained easily and rapidly by means of an ultrasound examination. With this procedure, a diagnosis can be made before the first symptoms appear and long before renal insufficiency is detectable in the blood.

Can PKD be treated?

So far, it has been possible to treat only the symptoms and consequences of PKD, without being able to arrest the growth of cysts. An effective therapy has been available in Switzerland since 2017 with the drug Tolvaptan. Tolvaptan is an active ingredient, which is taken as a tablet twice a day. The drug inhibits in the kidney the absorption of water in the body. In a large study, Tolvaptan has been shown to decrease kidney dysfunction, reduce the kidney growth, the kidney pain, and the rate of kidney infection compared to placebo.

Hope through research

Research has made giant strides in recent years. Very promising new approaches have been explored with a view to hampering cyst formationHowever, throughout Europe, very little money is currently being made available for such research, despite the fact that health services are incurring considerable costs for dialysis, transplantation and concurrent disorders resulting from PKD. The annual cost of dialysis for only one patient is approximately CHF 70,000!

What does the diagnosis of PKD imply for those affected?

The diagnosis of PKD is no cause for alarm, but rather an opportunity to seek timely information about the implications of the disease and its treatment options.

Depending on the stage at which the disease is diagnosed, the patient should take a serious look at his life-style, in particular as regards his diet and sporting activities. Questions concerning his social environment also could be asked.

SwissPKD gathers comprehensive information about the disease, its effects and its treatment options, as well as fostering research with the goal of curing the disease. However, we also count on your support. We therefore urge you to become a member of SwissPKD today. You can join quickly and easily right here or by sending an e-mail to info[at]swisspkd.ch. SwissPKD is registered as an association of public benefit and all donations made to it are entirely tax-deductible.

Kidney function
Healthy kidneys are responsible for the decontamination of harmful sub-stances in the body, regulation of water- and electrolyte balance, maintainance of acid-base-balance, as well as the production of hormones and enzymes. 
PKD
Specialised PKD centres provide comprehensive advice and care to patients and their families. 
Comparison
Healthy kidney (left) and kidney affected with PKD (right)

 

What does the diagnosis of PKD imply for those affected?

The diagnosis of PKD is no cause for alarm, but rather an opportunity to seek timely information about the implications of the disease and its treatment options.

Depending on the stage at which the disease is diagnosed, the patient should take a serious look at his life-style, in particular as regards his diet and sporting activities. Questions concerning his social environment also could be asked.

What's the aim of SwissPKD?

SwissPKD gathers comprehensive information about the disease, its effects and its treatment options, as well as fostering research with the goal of curing the disease. However, we also count on your support. We therefore urge you to become a member of SwissPKD today. You can join quickly and easily right here or by sending an e-mail to info@swisspkd.ch. SwissPKD is registered as an association of public benefit and all donations made to it are entirely tax-deductible.

Join SwissPKD or send us a donation

SwissPKD gathers comprehensive information about the disease, its effects and its treatment options, as well as fostering research with the goal of curing the disease.

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Watch the video and learn more about PKD

With PKD, kidneys can swell to four times their healthy size and weigh up to 100 times more.

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Videos of persons concerned

Life with ADPKD: Patients stories.

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