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Polycystic Kidney Disease

Bull Terrier Polycystic Kidney Disease (BTPKD) is an autosomal dominant disease of English Bull Terriers which is characterized by bilateral renal cysts and leads to chronic renal failure in middle to old age.

Affected Genes: PKD1

Inheritance: Autosomal Dominant

Variant(canFam6):
chr6:40095839: G>A

Breed: Bull terriers

General Information: Polycystic Kidney Disease is a hereditary disorder that typically manifests in dogs at a young age, causing the development of fluid-filled cysts in the kidneys. These cysts can progressively enlarge, leading to kidney dysfunction and eventually kidney failure. Affected dogs may exhibit symptoms such as excessive thirst and urination, loss of appetite, weight loss, lethargy, vomiting, and abdominal discomfort. The severity and rate of disease progression can vary, but it often results in chronic kidney disease over time. Early diagnosis and management, including dietary modifications and regular veterinary monitoring, can help to slow the progression and manage symptoms.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the PKD1 gene can identify whether a dog is a carrier of Polycystic Kidney Disease. This disease is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for the dog to be affected. Carrier dogs will show symptoms and can pass the mutated gene to their offspring. Breeding decisions should be made carefully to avoid producing affected pups, and genetic testing is crucial for informed breeding practices. Dogs that are not carriers have no increased risk of having pups with the disease.

References:
Gharahkhani P, O’Leary CA, Kyaw-Tanner M, Sturm RA, Duffy DL. A Non-Synonymous Mutation in the Canine Pkd1 Gene Is Associated with Autosomal Dominant Polycystic Kidney Disease in Bull Terriers. PLoS ONE 2011 6(7):e22455.