Familiar nephropathy or hereditary nephropathy is an inherited disease causing kidney failure. The disease is the result of structural glomerular basement membrane (GBM) defects that alter mature kidney function. GBM is built of a network of collagen type IV molecules and mutation in any of collagen type IV gene can cause the disease. Affected dogs typically develop severe (end-stage) renal disease by the time they are 6 -24 months of age. The first clinical signs observed include excessive water consumption, excessive urine volume, reduced growth rate or weight loss, poor hair coat quality, vomiting and reduced appetite.
Inheritance: autosomal recessive - read more
Mutation: COL4A4 gene
Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: English Cocker Spaniel, English Springer Spaniel
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.