Protein-losing nephropathy / PLN risk panel (NPHS1/KIRREL2) - Airedale Terrier / Irish Soft Coated Wheaten Terrier

What does this test examine?

This DNA test is a PLN risk panel for protein-losing nephropathy, also known as PLN, protein-loss nephropathy and hereditary glomerulopathy. The panel analyses two variants used together for risk assessment in the Airedale Terrier and Irish Soft Coated Wheaten Terrier: NPHS1 c.3067G>A and KIRREL2 c.1877C>G.

What does this condition mean?

In PLN, the kidneys lose too much protein through the urine, especially albumin. This happens when the glomerular filtration barrier is damaged. Affected dogs can develop weight loss, reduced condition, fluid accumulation, vomiting, diarrhoea, increased drinking and urination and eventually kidney failure.

PLN is not a simple one-variant disease. The genetic background is complex and incompletely penetrant: dogs with risk variants have increased susceptibility, while age, background and other factors influence expression. That is why testing both markers together is more useful than looking at only one marker.

Inheritance and result

This test is interpreted as a multifactorial/polygenic risk profile. Each subtest shows whether the dog carries zero, one or two copies of the tested risk variant.

• NPHS1 c.3067G>A - variant in the nephrin gene, important for kidney filtration.
• KIRREL2 c.1877C>G - variant in the Neph3/filtrin pathway, also involved in the filtration barrier.
• Two copies of risk variants, especially when both markers are unfavourable, indicate a clearly higher genetic PLN risk.

Practical value of this test

The test gives breeders and owners useful information for a disease that often becomes visible later in life. Because clinical signs may occur after breeding age, genetic information is valuable before breeding decisions are made.

• Helps identify risk animals and risk combinations in susceptible terrier lines.
• Supports breeding plans that reduce the chance of puppies with an unfavourable marker combination.
• Encourages more focused follow-up of urinary protein, kidney values and general condition.
• Supports family screening and line management in lines with kidney disease or protein loss.
• Provides more context than a single marker by testing both PLN-related variants together.