Protein Losing Nephropathy
Affected Genes: KIRREL2, NPHS1
Inheritance: Multigenic Associative Markers
Variant(canFam6):
KIRREL chr1:116190569 G>C
NPHS1 chr1:116211681 G>A
Breed: Airedale Terrier
Danish-Swedish Farmdog
Soft Coated Wheaten Terrier
General Information: Protein Losing Nephropathy (PLN) is a serious kidney condition in dogs where the kidneys fail to retain essential proteins in the bloodstream, allowing them to be lost in the urine instead. This condition typically manifests in middle-aged dogs and can present with vague symptoms such as vomiting, diarrhea, weight loss, increased thirst, and frequent urination. Some dogs may also exhibit incontinence, especially if they are drinking excessively. More severe signs include edema (swelling) and ascites (fluid accumulation in the abdomen), sometimes extending to the lungs. The progression of PLN often leads to a decline in the dog's health, with many dogs being euthanized within months of diagnosis due to the poor prognosis and quality of life.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Possibly Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Protein Losing Nephropathy (PLN) can identify mutations in the KIRREL2 and NPHS1 genes, which are indicative of a dog's susceptibility to this condition. PLN follows a complex inheritance pattern, where the risk of developing the disease is highest in dogs that inherit two copies of mutated genes. Carriers, having one copy of either or both mutations, may not show symptoms but can still pass these genes to their offspring. It is crucial for breeders to test breeding dogs to identify carriers and affected individuals to prevent the transmission of this debilitating condition. Breeding strategies should avoid mating carriers to minimize the risk of producing affected puppies. By implementing responsible breeding practices, based on reliable genetic testing, breeders can help reduce the incidence of PLN in future generations. Dogs confirmed through genetic testing to not carry any of the associated mutations are at no increased risk of producing affected offspring.
References:
Littman MP, Dambach DM, Vaden SL, Giger U. Familial protein-losing enteropathy and protein-losing nephropathy in Soft Coated Wheaten Terriers: 222 cases (1983-1997). J Vet Intern Med. 2000 14(1):68-80.
Littman MP, Wiley CA, Raducha MG, Henthorn PS. Glomerulopathy and mutations in NPHS1 and KIRREL2 in soft-coated Wheaten Terrier dogs. Mamm Genome 2013 24(3-4):119-126.
Vaden S, Giger U, Spaulding K, Sellon R, Littman M, Harris T, Afrouzian M, Jennette J, Williams D, VanCamp S. Inheritance of protein-losing enteropathy and nephropathy of Soft Coated Wheaten Terriers. J Vet Intern Med. 2000 16:352