Protein Losing Nephropathy, PLN

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.

PLN has an adult onset.

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 NPHS1 mutation was first described in Soft Coated Wheaten Terriers and Airedale Terriers with PLN. This mutation always accompanied a mutation in the nearby KIRREL2 gene. Both genes code for proteins that determine the size of the molecules that can pass into the urinary space. The two mutations are tightly linked, and together are considered a risk haplotype; ie, dogs with the NPHS1 mutation virtually always have the KIRREL2 mutation.

Penetrance: Dogs with one or two copies of this mutation are at risk for developing PLN, although dogs with two copies have a much higher incidence of disease. This mutation is incompletely penetrant, meaning that other genetic and environmental factors contribute to the development of this disease.

Gene

NPHS1

Inheritance type

complex

Clinical category

Urinary

Citations

1. Littman et al 2013

• Airedale Terrier
• Soft Coated Wheaten Terrier