Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy, ARHN

Affected dogs exhibit muscle wasting, abnormal accumulation of fluids in tissue (usually first observed as edema in the limbs), and excessive thirst and urination. PLN dogs are at high risk of clotting problems due to a loss of clotting proteins. Finally, excessive protein is toxic to the kidney, so dogs develop signs of kidney failure: vomiting, poor appetite, lethargy, and changes in thirst and urination.

Signs typically develop as early as 2-3 months of age and rapidly progress in severity.

PLN is diagnosed through genetic, urine and blood testing. Additional tests, including blood pressure and abdominal ultrasound, may be recommended based on your dog’s clinical signs. There are secondary causes of PLN not associated with genetic mutations.

Current therapies for PLN are aimed at reducing the protein load on the kidney and fighting the toxic effects of protein wasting. Dietary and medication recommendations are based on how clinically advanced the PLN is. Dialysis, kidney transplants, and gene therapy are being explored as potential treatment options.

Talk to your vet about your dog’s nephropathy result so you can work together to plan ongoing care and monitoring.

Schedule regular checkups and lab testing as recommended to monitor kidney function and detect any changes early.

Your vet may recommend a kidney-supportive diet and supplements to help maintain kidney health.

Watch for changes in drinking or urination habits, such as increased thirst, accidents, or changes in urine volume, and contact your vet if you notice any of these signs.

This mutation was first described in the English Cocker Spaniel.

Penetrance: This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.

Gene

COL4A4 (Exon 3)

Inheritance type

recessive

Clinical category

Urinary

Citations

1. Davidson et al 2007
2. Donner et al 2016

• Cocker Spaniel
• English Cocker Spaniel
• English Cocker Spaniel (Working Type)
• Welsh Springer Spaniel