The adult polycystic kidney (ADPKD) is a genetic disease with an incidence of 1 in 1000 people. As per name, it causes the formation of cysts on both kidneys, compromising organ function. This makes it the leading genetic cause of kidney failure in adult individuals.
The disease is known above all for its devastating effects on the kidneys, which force many patients to have dialysis. Nevertheless, it is actually a systemic disease that also affects other organs. Cysts can affect the liver and pancreas, while the effects can be pushed up to the onset of hypertension and aneurysms.
The adult polycystic kidney usually occurs between 40 and 50 years of age, so it is a late-onset disease. However, the age of onset can be very variable. The first obvious symptoms include lower back pain, blood in the urine, hypertension. Their severity varies from individual to individual, based on genetic and environmental factors. The degeneration of the kidneys may be more or less rapid, but remains inevitable.
The researchers think that there are two possible genetic causes for the polycystic kidney of the adult: mutations in PKD1 and in PKD2. Mutations cause different forms of the disease, which cannot be distinguished on an exclusively clinical level.
Some hypothesize that the anomalies in the first gene are linked to more aggressive forms of the pathology. For the moment, the available therapies are few. Drugs are used to treat chronic pain and hypertension. In severe cases, the kidneys stop working completely and dialysis is needed.