Polycystic kidney disease (PKD) is a genetic disease that causes multiple small cysts, or fluid-filled sacs, to develop in the kidneys. Most cases cause no problems until the age of 30 to 50 years old, when they have grown large enough to affect the functioning of the kidneys, causing symptoms or changes to blood tests. This is so-called adult PKD, as although children are born with it, symptoms don't appear until adulthood. It’s also known as autosomal dominant PKD, according to how it is inherited. Each parent has a 50% chance of passing it on to their child.
More rarely, symptoms may be seen in babies or children, and this is called infantile PKD or autosomal recessive PKD. It’s more serious as the kidneys are under strain from an early age and cysts can also appear on the liver. It’s inherited only if both parents carry the faulty gene.
Around a quarter of PKD cases have no known family history, it either occurs spontaneously or was never diagnosed in relatives. They can pass the condition on to their children.
Those with a parent with PKD will have scans to check – this can happen as early as in pregnancy scans. Symptoms that the kidneys are enlarged or under strain include pain in the back or sides, recurrent urinary tract infections (UTIs), kidney stones, blood in the urine or high blood pressure.
You may have a scan of your kidney for any reason – acute kidney injury (AKI) or recurrent UTIs – and this may show a cyst on the kidney. Depending on its size and location, most times, this is relatively meaningless if the kidney function monitored by your blood is fine and you have no symptoms, It might be monitored every so often to check the cyst has not substantially grown. It can also spontaneously disappear.
You will have regular blood tests – at least once a year – to monitor how well your kidneys are functioning. If they show persistent deterioration – if the creatinine is repeatedly raised – you will be diagnosed with chronic kidney disease (CKD), which is permanent damage to the kidneys.
You will have regular ultrasound scans to check the size of the kidneys as thousands of cysts cause it to enlarge. If there are any abnormalities, other scans may be organised to consider if there are any blockages in the tubes carry urine from the kidneys to the bladder and out of the body.
Unfortunately there is no treatment for PKD. As with any case of CKD, you should look after the things you can look after: to lose weight if you are overweight or obese, and to stop smoking if this applies. You should follow a diet low in fat, sugar and salt and take regular exercise. If you do develop diabetes, high blood pressure or high cholesterol, you should engage in the treatment for this and follow your doctor’s advice to keep this well-controlled.
PKD can sometimes progress from the early stages of CKD to advanced CKD, or end-stage renal failure, which requires dialysis or a kidney transplant. Autosomal recessive CKD carries a higher risk of this.
A medication called tolvaptan may be considered in adults with rapidly progressive PKD, but this is under specialist guidance.
PKD carries a higher risk of other life-threatening conditions, including heart attacks and stroke and problems with blood vessels in the brain, such as bleeding (subarachnoid haemorrhage) or bulging (brain aneurysm).
Was this helpful?
Was this helpful?