Polycystic kidney disease / PKD (PKD1-related) - Bull Terrier

What does this test examine?

This genetic test analyses the PKD1 c.9559G>A variant for polycystic kidney disease, also known as PKD, autosomal dominant polycystic kidney disease, Bull Terrier PKD or BTPKD. PKD1 encodes polycystin-1, a protein important for normal renal tubular structure and signalling. The tested variant alters the PKD1 protein and causes the Bull Terrier form of PKD.

What does PKD mean for the dog?

In PKD, fluid-filled cysts develop in both kidneys. These cysts can enlarge over time and replace healthy kidney tissue, gradually reducing kidney function. In Bull Terriers the condition can be linked with proteinuria, blood or inflammatory cells in urine, high blood pressure, reduced condition, increased drinking and urination, vomiting, lethargy and eventually chronic renal problems. Because progression can be slow, genetic information is especially useful before clinical signs become obvious.

Inheritance and result

The trait is autosomal dominant. One copy of the tested variant is sufficient to cause the genetic PKD risk. A positive result is therefore directly relevant for breeding selection and health planning.

• Clear: the tested variant was not detected.
• Positive heterozygous: one copy is present; this causes genetic predisposition to PKD and can be passed on.
• Positive homozygous: two copies are present; this is also a positive genetic result and should be considered carefully in breeding decisions.

Practical value of this test

For breeders, the test makes PKD risk visible early and objectively before a dog is used for breeding. The result helps avoid offspring carrying the variant, select lines more deliberately and provide transparent genetic information to puppy buyers. For veterinarians and owners it supports focused follow-up of kidney health in genetically positive dogs.