Protein Losing Nephropathy, PLN

Kidney and Bladder

Protein Losing Nephropathy causes inappropriate loss of protein in the urine. Certain parts of the kidney act as a sieve where ions, small molecules like urea, and water are filtered out of the blood into the urine. In PLN, the sieve is compromised and protein moves in the urine. This leads to muscle wasting, abnormal fluid accumulation in the skin and limbs, and kidney failure.

  • Signs and symptoms

    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.

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  • Diagnosis

    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.

  • Treatment

    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.

  • What to do if your dog is at risk

    Actions

    • Regular veterinary visits and laboratory testing will be vital to catching this disease in any early stage where it can be more easily managed.
    • Closely monitor your dog for changes in their drinking and urination patterns.

  • Genetic Information

    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.

    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 names:

    NPHS1 ‐ chr1

    Inheritance type:

    complex

  • Breeds affected

    This health condition affects the following breeds

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