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Polycystic kidney disease

Dr Karen Martin
Reviewed by Dr Karen MartinReviewed on 19.10.2023 | 4 minutes read

Polycystic kidney disease (PKD) is a genetic disease that causes multiple small cysts, or fluid-filled sacs, to develop in the kidneys. This usually causes no problems until the age of 30 to 50, when they have grown large enough to affect the functioning of the kidneys, causing symptoms or changes in 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 1 in 2 chance of passing it on to their child.

More rarely, symptoms may be seen in babies or children, 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.

Doctor’s advice

How do I know if I have PKD?

Those with a parent with PKD will have an ultrasound scan to check their kidneys– this can sometimes happen in early pregnancy. Symptoms that the kidneys are enlarged or under strain include pain in the lower back or sides, recurrent urinary tract infections (UTIs), kidney stones, blood in the urine, or high blood pressure.

A scan showed a cyst on my kidney, what does this mean?

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, this is usually 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 that the cyst has not substantially grown. It can also spontaneously disappear.

How is PKD monitored?

You will have regular blood tests – at least once a year – to monitor your kidneys' functioning. If they show persistent deterioration – if the creatinine is repeatedly raised – you will be diagnosed with chronic kidney disease (CKD), which is permanent kidney damage.

You will have regular ultrasound scans to check the size of the kidneys, as thousands of cysts cause them to enlarge. If there are any abnormalities, other scans may be ordered to consider if there are any blockages in the tubes that carry urine from the kidneys to the bladder and out of the body.

How is PKD treated?

Unfortunately, there is no treatment for PKD. As with any case of CKD, you should look after the things you can:

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, stroke, and brain blood vessel problems, such as bleeding (subarachnoid hemorrhage) or bulging (brain aneurysm).

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This article has been written by UK-based doctors and pharmacists, so some advice may not apply to US users and some suggested treatments may not be available. For more information, please see our T&Cs.
Dr Karen Martin
Reviewed by Dr Karen Martin
Reviewed on 19.10.2023
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