Polycystic Kidney Disease

Polycystic kidney disease is an autosomal dominant pathology that causes the growth of numerous cysts in the kidneys that can interfere with their normal function and ultimately lead to kidney failure.

Symptoms

Symptoms of polycystic kidney disease in dogs can vary depending on the severity and stage of the disease. Some dogs may not show any symptoms until the disease has advanced significantly. Bilateral renal cysts occur and may lead to chronic renal failure in middle-aged or adult dogs. Symptoms such as increased thirst and urination, loss of appetite, weight loss, lethargy and vomiting may occur.

Disease Management

There is no cure for polycystic kidney disease, and treatment focuses on slowing the proliferation of cysts and controlling the animal's discomfort. Large cysts can be drained by a surgical procedure. Dietary changes, such as a low-protein diet and vitamin D supplementation, are often used. If necessary, medications can be used to help control blood pressure, vomiting and infections.

Genetic basis

This disease follows an autosomal dominant mode of inheritance. Autosomal dominant inheritance means that dogs only have to inherit one copy of the mutation or pathogenic variant to be at risk of developing the disease. Each puppy born to a parent carrying one copy of the mutation has a 50% chance of inheriting one copy of the mutation and being at risk for the disease. Breeding between dogs carrying genetic variants that can cause disease is not recommended, even if they do not show symptoms.

Technical report

Polycystic kidney disease is an autosomal dominant inherited disease that has been described in Bull terriers, Cairn terriers and West Highland white terriers characterized by renal cysts cortical and medullary cysts and interstitial inflammation and fibrosis. The variant we analyze here is the one identified by Gharahkhani et al. (named c.9559G>A or E3187K) in Bull terrier dogs in the PKD1 gene encoding for polycystin 1 that appears to play a key role in renal tubular development.

Most affected breeds

Bull Terrier

Bibliography

Gharahkhani P, O'Leary CA, Kyaw-Tanner M,et al. 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.

O'Leary CA, Ghoddusi M, Huxtable CR. Renal pathology of polycystic kidney disease and concurrent hereditary nephritis in Bull Terriers. Aust Vet J. 2002 Jun;80(6):353-61.

Vagias M, Chanoit G, Bubenik-Angapen LJ,et al. Perioperative characteristics, histologic diagnosis, complications, and outcomes of dogs undergoing percutaneous drainage, sclerotherapy or surgical management of intrarenal cystic lesions: 18 dogs (2004-2021). BMC Vet Res. 2022 Jun 20;18(1):233.