Chronic kidney disease
Almost everyone with the PKD1 type of autosomal dominant polycystic kidney disease (ADPKD), and around half of people with the PKD2 type of ADPKD will lose a significant amount of kidney function. Loss of kidney function caused by kidney damage is known as chronic kidney disease (CKD).
CKD does not usually cause any symptoms until it has reached an advanced stage. The main symptoms include:
- swollen ankles, feet or hands (due to water retention)
- shortness of breath
- blood in the urine (haematuria)
The most advanced stage of CKD is called kidney failure or end-stage renal disease. This occurs when the kidneys have lost almost all of their ability to function.
It is possible to compensate for the effects of kidney failure by using medication on a short- to medium-term basis.
There are currently two effective treatments that can be used on a long-term basis:
- dialysis - a machine replicates the functions of your kidneys
- kidney transplant - a kidney is removed from a living or recently deceased donor and implanted into a patient with chronic kidney disease
As the body can survive with only one kidney, it possible to donate one kidney without having any health problems.
See the Health A-Z topics about Chronic kidney disease, Dialysis and Kidney transplant for more information.
Around 1 in 100 women who are healthy but carry either the mutated PKD1 or PKD2 gene will develop pre-eclampsia during their pregnancy.
Pre-eclampsia is a relatively common complication of pregnancy where a woman has a rise in blood pressure and an increased level of protein in her urine. Initial symptoms of pre-eclampsia include sudden swelling of the feet, ankles, face and hands.
As the condition progresses, you may also have one or more of the following symptoms:
- severe headaches
- vision problems, such as blurred vision, or seeing flashing lights before your eyes
- pain in your upper abdomen (just below your ribs)
- excessive weight gain as a result of fluid retention
- feeling generally unwell
Seek medical advice immediately if any of these symptoms develop. Without immediate treatment, your condition may get worse or you may develop complications.
The only way to cure pre-eclampsia is to deliver your baby. However, if it is too early in your pregnancy to induce labour safely, medications can be used to help relieve your symptoms.
The most serious cases of pre-eclampsia usually require admission to hospital so that you and your baby's health can be carefully monitored.
Cysts in other areas of the body
ADPKD can cause cysts to develop in other areas of your body besides your kidneys. Cysts in the liver are a common complication, particularly in older people. Around 40-70% of people with ADPKD develop cysts in their liver.
Liver cysts can develop in men and women, but women tend to have more cysts that grow to larger sizes and develop at an earlier age. This is thought to be linked to female hormones, such as oestrogen.
Less commonly, cysts can also develop in other organs. For example:
- in the pancreas - a small organ that helps with the digestion of food
- in the spleen - an organ that helps filter infectious agents, such as viruses, from the blood
- in the seminal vesicle glands in men - the glands that produce semen, which are located behind the bladder
If cysts have enlarged these organs, your GP may be able to feel them in your abdomen (tummy). Cysts in other organs can cause discomfort if they press against the organs and surrounding tissue.
However, cysts rarely affect how the organs work. For example, cysts in the liver caused by ADPKD tend to press on normal health liver tissue rather than replacing it. Therefore they do not cause liver failure.
An aneurysm is a bulge in a blood vessel that is caused by a weakness in the blood vessel wall. As the blood passes through the weakened part of the vessel, the blood pressure causes it to bulge outwards like a balloon.
An intracranial aneurysm is an aneurysm that develops inside the brain. Intracranial aneurysms are much more common in people with ADPKD, which is most likely due to the high blood pressure that is associated with the condition weakening the blood vessel walls.
It is estimated that 4-12% of people with ADPKD develop an intracranial aneurysm compared to 1% of the general population.
An intracranial aneurysm does not cause any noticeable symptoms unless it ruptures (bursts). The ruptured aneurysm causes bleeding over the surface of the brain. This is known as a subarachnoid haemorrhage.
Symptoms of a subarachnoid haemorrhage include:
- a sudden and severe headache, which has been described as a 'thunderclap headache' - it is similar to a sudden hit on the head and causes a blinding pain that is unlike anything ever experienced before
- stiff neck
- sickness and vomiting
- slurred speech
- changes in personality and behaviour, such as depression, apathy (lack of feeling and emotion) or extreme mental confusion (delirium)
Around 30-40% of people who have a subarachnoid haemorrhage will also experience impaired consciousness or a total loss of consciousness.
A subarachnoid haemorrhage is a medical emergency that requires immediate treatment to prevent serious complications, brain damage and death.
Call 999 immediately to request an ambulance if you suspect that you or someone you know is having a subarachnoid haemorrhage.
People who are most likely to develop an intracranial aneurysm are those with a family history of aneurysms. If you have ADPKD and you have a close family member with a confirmed diagnosis of an intracranial aneurysms (such as your mother, father, brother, sister, aunt or uncle) it is recommended that you are screened for aneurysms every five years.