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Familial Nephropathy (English Springer Spaniel Type)
Affected Genes: COL4A4
Inheritance: Autosomal Recessive
Variant(canFam6):
chr25:40511303: G>A
Breed: English Springer Spaniel
General Information: Familial Nephropathy (FN) (English Springer Spaniel Type) is a genetic disorder that affects the kidneys of English Springer Spaniels, leading to the progressive loss of kidney function. In healthy dogs, protein is not usually found in the urine; however, in dogs with FN, a defect in the kidney filtration system allows protein to leak from the blood into the urine. This abnormal protein loss can typically be detected between 4 to 6 months of age. As the condition progresses, affected dogs may show signs of chronic kidney disease, including excessive thirst and urination, vomiting, loss of appetite, weight loss, and general weakness. Some dogs may also exhibit inappropriate urination due to increased fluid intake. Tragically, most dogs with FN succumb to chronic kidney failure by the age of one to two years, making early detection and management crucial.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Familial Nephropathy (FN) in English Springer Spaniels involves screening for mutations in the COL4A4 gene. This disease is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carrier dogs, which have one copy of the mutation, do not display symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. Genetic testing is essential for identifying carriers and making informed breeding decisions to avoid producing affected puppies. To prevent the spread of FN, it is recommended that breeders avoid pairing carriers. Ensuring that at least one parent in a breeding pair is free from the COL4A4 mutation helps eliminate the risk of this severe kidney disease and promotes the overall health of future generations.
References:
Nowend KL, Starr-Moss AN, Lees GE, Berridge BR, Clubb FJ, Kashtan CE, Nabity MB, Murphy KE. Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel. J Vet Intern Med. 2012 26(2):294-301.