Polycystic Kidney Disease

Polycystic kidney disease is an inherited kidney disorder that causes many complications and some of its forms may be even life-threatening. It is not as a rare disease as it might seem. The frequency of its occurrence is about one person out of 500 people.


The cause of the disease is an inherited genetic disorder that can occur as a new mutation, or it may be transferred to a child from a sick parent. The disease has two basic forms - the dominant and recessive type with a slightly different inheritance (not so important for the laymen).


The genetic disorder begins to manifest with formation of cysts in the kidney tissue. A cyst is a hollow formation that grows at the expense of the surrounding kidney tissue, which is compressed and damaged. The recessive form of the disease is very severe. There occur many small cysts in kidneys causing chronic kidney failure in childhood.


The dominant form of the disease is not as aggressive and it progresses more slowly. It forms large cysts (often many centimeters in diameter) that gradually destroy the surrounding kidney tissue. Therefore, the chronic kidney failure progresses very slowly and the total loss of kidney functions occur at the age of 50-70. The existence of cysts, however, may lead to other unpleasant complications. The cysts may bleed or get infected by bacteria (repeated kidney infections).


Polycystic kidney



The disease may have a positive family history, but sometimes the gene mutation arises in a previously healthy family. In blood tests, we can find elevation of kidney parameters and other signs of chronic kidney failure. The cysts may be well visualized by abdominal ultrasound. The definitive proof is genetic testing with a positive confirmation of the presence of the mutation.


The prevention of the condition is not possible as we have no efficient defense against congenital diseases.


The disease itself is incurable, but we can treat the chronic kidney failure and try to slow its progression. The recurrent infections may be treated by antibiotics. However, the ultimate solution is only the dialysis. Besides, some people may be indicated for a kidney transplant.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Contact: jiri.stefanek@seznam.cz
 Sources: basic text sources