Information about polycystic kidney disease

What is polycystic kidney disease? (PKD)

• A common inherited kidney condition that affects males and females equally.
• Cysts develop in each kidney – from a few to many hundred – each one is like a blister and contains clear fluid.
• The kidneys can become very large. Individual cysts can also become very big.
• These cysts can also appear in the liver and pancreas.
• It may lead to kidney failure but liver and pancreatic function do not usually suffer.
• Each child of an affected individual has a 50% chance of inheriting the disease.
• Each sibling of an affected individual has a 50% chance of inheriting the disease.
• PKD can occur spontaneously i.e. without a family history of the condition. In this situation, siblings are not at risk.
• Genetic testing for polycystic kidney disease is now possible. There are two main genes that can be at fault; PKD1 (in the majority) and PKD2.

Complications of polycystic disease

Polycystic kidney disease can cause complications although not all patients will get all or any of these.

• Pain due to enlarged kidneys, bleeding into a cyst or infection in a cyst
• High blood pressure which will need medication
• Blood in the urine
• Protein in the urine
• Kidney stones
• Urinary tract or cyst infections
• Decreased kidney function: the rate of deterioration can vary but may lead to kidney failure requiring dialysis or transplantation
• Cerebral aneurysm: weakness in the wall of a blood vessel in the brain
• A heart murmur: this is rarely serious
• Diverticulosis: weakness in the bowel wall

Diagnosis and treatment of polycystic kidney disease

Diagnosis of the condition is made from one or more of the following:

• Family history
• Physical examination
• Ultrasound scan of the kidneys
• Blood tests
• Genetic testing

Treatment for PKD is aimed at delaying loss of function of the kidneys by:

• Monitoring and treating high blood pressure which will require tablets
• Drinking lots more water
• Treating urinary tract infections promptly with antibiotics
• Avoiding some drugs, for example ibuprofen, if possible
• Tablets to reduce protein in the urine (ACE inhibitors)
• Monitoring cholesterol and treating raised levels with tablets
• Some patients may be eligible for treatment with Tolvaptan to slow progression of PKD. Please discuss with the doctor at your appointment.
• We can also offer further advice and genetic counselling if required

Where can I get further information?

In the first instance please call 01223 217828 (renal secretariat)

The tolvaptan specialist nurse can be contacted via the same number

Additional sources of information

• Polycystic Kidney Disease booklet – Available in Renal Genetics Clinic
• National Kidney Federation (opens in a new tab)
• Polycystic Kidney Disease Charity (opens in a new tab)
• UK Kidney Association - Rare renal (opens in a new tab)
• MERCK (opens in a new tab)

Addenbrooke’s Kidney Patient Association (AKPA) contact details available from the Renal Genetics Clinic

There is a lot of information available via the web but not all of this may be relevant to you and it may prove frightening. If you have any concerns please discuss this with us in clinic.

If you would like to be involved in research, please let us know in clinic or on the contact number above.

Renal genetics and tubular disorders clinic

Box No. 118

Direct dial: 01223 217828

Consultants

• Professor Fiona Karet - Nephrology
  Telephone: 01223 762617
• Dr Richard Sandford - Clinical genetics
  Telephone: 01223 348845
• Dr Anita Sarker - Biochemistry
  Telephone: 01223 586820
• Tolvaptan specialist nurse
  Telephone: 01223 256715