Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic condition that causes multiple cysts to develop on the kidneys. Cysts are small sacs that are filled with fluid.
The symptoms of ADPKD begin to present until adulthood, usually between the ages of 30 and 60.
Symptoms can include:
high blood pressure (hypertension)
abdominal pain
blood in the urine (Haematuria)
The symptoms of ADPKD can range from mild to severe.
The kidneys
The kidneys are two bean-shaped organs that are located on either side of the body, just underneath the ribcage.
The main role of the kidneys is to filter out waste products from the blood before converting them into urine. The kidneys also play another important role in maintaining blood pressure at a healthy level.
The genetics of ADPKD
ADPKD is caused by a genetic mutation that disrupts the normal development of the kidneys. A genetic mutation occurs when the normal instructions that are carried in certain genes become ‘scrambled’.
Two genetic mutations are known to cause ADKPD:
PKD1, which accounts for 85% of cases
PKD2, which accounts for 15% of cases
Both of the sub-types of ADKPD have the same symptoms, although PKD1 tends to cause more severe symptoms.
The outlook for ADPKD is relatively poor in the long-term. Progressive damage to the kidneys can occur, and this can result in the kidneys losing all or nearly all their functions. This is known as Kidney Failure or End-Stage Renal Disease.
Almost all people with the PKD1 will have Kidney Failure by the time they are 70 years old. The average age of Kidney Failure is 54.
The outlook for people with PKD2 is slightly better. Only half of people with this form of the condition have Kidney Failure. The average age of Kidney Failure is 74.
Another serious problem which ADPKD people face is that the high blood pressure associated with the condition that increases their risk of developing cardiovascular disease (CVD). CVD is any sort of condition that affects the heart or circulation of the blood, such as:
blood clot – blood clots are clumps of hardened blood that can develop inside a blood vessel or organ
stroke – where the supply of blood to the brain is blocked, potentially putting a person at risk of serious brain damage
heart attack – where the supply of blood to heart is blocked, causing damage to the heart muscle