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Polycystic Kidney Disease

Polycystic Kidney Disease (PKD) is a condition causing formation of cysts in the kidneys which leads to chronic kidney failure.

Key Signs

Bilateral renal cysts, Renal failure

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Dominant

For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with PKD

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about PKD

In PKD, an affected dog develops several bilateral kidney cysts of different sizes, which cause structural kidney damage. The disease leads to chronic renal failure in adulthood. Clinical signs of chronic renal failure include excessive drinking and frequent urination.

Medical and dietary treatment is directed at managing the renal disease.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal dominant meaning that one copy of the mutation is needed for disease signs to occur. Use of dogs with one or two copies of the disease mutation is not recommended, as there is a risk that the resulting litter will contain affected puppies. For example if a dog with one copy of the PKD mutation is bred with a clear dog with no copies of the PKD mutation, about half of the puppies will have one copy and half will have no copies of the PKD mutation. Please note: It is possible that disease signs similar to the ones caused by the PKD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene PKD1
Variant G>A
Chromosome 6
Coordinate 38,856,816

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Gharahkhani, P., O’Leary, C. A., Kyaw-Tanner, M., Sturm, R. A., & Duffy, D. L. (2011). A Non-Synonymous mutation in the canine PKD1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers. PLoS ONE, 6(7), 1–8. View the article