PKD, A RARE AND STILL INCURABLE GENETIC DISEASE!

Today, there are about a few thousand genetic diseases in the world. The causes of these diseases are as numerous as their symptoms. What’s more, most of them are very rare and are still incurable, including polycystic kidney disease or PKD.

ALL YOU NEED TO KNOW ABOUT POLYCYSTIC KIDNEY DISEASE OR PKD

Polycystic kidney disease is a disease characterized by numerous cysts that develop on both kidneys. These cysts are, of course, fluid-laden cavities from the kidney tissue. Hereditary, PKD is genetically transmitted in a different way and does not have the same consequences. Even being rare and still incurable, it is more common than other genetic diseases well known to the general public. PKR affects more than one person in a thousand in the world, i.e. between 80,000 and 100,000 French people and 12 million in the rest of the world.

THE DIFFERENT TYPES OF POLYCYSTIC KIDNEY DISEASE

In general, two types of polycystic kidney disease (PKDK) can be found, namely autosomal dominant polycystic kidney disease (ADKDK) and autosomal recessive polycystic kidney disease (ARKDK). PKAD often does not develop until adulthood. As a result, a person with PKAD may unintentionally pass it on to their offspring. It is a common infection that is responsible for about 10% of end-stage renal disease. Statistically, the average age of onset of end-stage renal disease is about 54 years for PKD 1 and PKD 2 for people aged 74 years. However, PKD 2 can affect a person as soon as they are born and may reduce their life expectancy. PKAR is mainly characterized by associated renal cysts, hepatic fibrosis and biliary dysgenesis. Its symptoms may even begin before birth. This leads us to observe a perinatal mortality rate of about 75% due to related malformations and, of course, kidney failure.

THE QUESTION ARISES: HOW TO TREAT POLYCYSTIC KIDNEY DISEASE?

Apart from the usual nephroprotective measures, which consist in delaying end-stage renal failure if possible, there is still no specific recognised cure for polycystic kidney disease, whether PKAD or PKAR. For this reason, it is still considered an incurable disease. Even the largest cysts can be surgically removed. Kidney transplantation is also an option. But by choosing this option, kidney transplant rejection can occur when the recipient’s immune system considers the donor organ to be foreign. The recipient’s immune system will then try to eliminate it.