Adult to mature onset
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs may show signs of this disease in their lifetime, although many will not develop the condition due to absence of additional risk factors.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Protein losing nephropathy is characterized by high levels of protein in the urine. Clinical signs include weight loss, fatigue, vomiting, and diarrhea. Increased drinking and urination are also typically observed. Accumulation of fluid in the abdominal cavity (ascites) and chest cavity (pleural effusion), high blood pressure, and high cholesterol can be associated with the disorder as well. A characteristic sign of protein losing nephropathy is low albumin concentration in the blood (hypoalbuminemia) and presence of excess albumin in the urine (proteinuria). Protein losing nephropathy is an adult-onset disorder with onset of signs at the age of 4 to 8 years. Severity of signs can vary from mild to severe. Affected dogs can be treated with medication and controlled diet and those with mild signs can usually have a normal lifespan. Dogs suffering from severe signs have a shorter life expectancy.
The condition can be partly managed through diet therapy. Dietary options and the importance of diet management should be emphasized to clients.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
The development of Protein Losing Nephropathy is complex and additional research is needed to understand the various factors involved. Although it is not fully conclusive, there is scientific evidence which suggests the PLN NPHS1 gene variant has a complex mode of inheritance that is thought to most closely follow an autosomal recessive pattern with partial penetrance. Making dogs with one copy at some level of an increased risk and dogs with two copies at a higher risk of being diagnosed with this condition during their lifetime. Use of dogs with one or two copies for breeding will result in litters with puppies which also have this variant. For example, if a dog with one copy of the PLN variant is bred with a clear dog with no copies of the PLN variant, about half of the puppies will have one copy and half will have no copies of the PLN variant. Please note: It is possible that disease signs similar to the ones caused by the PLN variant could develop due to a different genetic or clinical cause.
| Gene | NPHS1 |
|---|---|
| Variant | G>A |
| Chromosome | 1 |
| Coordinate | 116,806,124 |
All coordinates reference CanFam3.1
Littman, M. P., Wiley, C. A., Raducha, M. G., & Henthorn, P. S. (2013). Glomerulopathy and mutations in NPHS1 and KIRREL2 in soft-coated Wheaten Terrier dogs. Mammalian Genome, 24(3–4), 119–126. View the article
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