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Familial Nephropathy - English Springer Spaniel Type (FN)
| Acronym: | FN, ARHN |
| Gene: | COL4A4 |
| Mutation: | c.2713C>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Familial Nephropathy (FN) is a hereditary kidney disorder that affects the proper function of the kidneys, leading to progressive renal failure. FN is characterized by abnormal development of the kidney’s filtration structures, specifically the glomeruli, which results in the loss of kidney function over time. The condition was first recognized in English Springer Spaniels, though similar kidney disorders have been identified in other dog breeds as well. Affected dogs typically show signs of kidney failure, such as increased thirst, weight loss, and lethargy, with symptoms usually appearing between 6 months to 2 years of age.
The root cause of FN in English Springer Spaniels is a genetic mutation affecting collagen, a critical component of the glomerular basement membrane. This leads to structural abnormalities that impair the kidney’s ability to filter waste from the bloodstream. The disorder is inherited as an autosomal recessive trait, meaning two copies of the mutated gene are necessary for a dog to develop the disease. Dogs with only one copy of the mutation do not show symptoms but act as carriers, capable of passing the defective gene to their offspring. Genetic testing is essential for early detection of FN carriers. This information can guide breeders in making informed decisions when selecting breeding pairs, helping to reduce the incidence of this debilitating disease in future generations of English Springer Spaniels.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
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 Mar-Apr;26(2):294-301. doi: 10.1111/j.1939-1676.2012.00888.x.