Cystinuria is an inherited disorder of renal transport characterised by high concentrations of cystine and other similar amino acids (ornithine, lysine, arginine). Excess cystine leads to formation of cystine crystals and stones in the urinary tract, which can result in urinary obstruction, hematuria and renal failure. Clinical signs usually appear between 4 months and 12 years of age. Kittens can also develop more severe disease appearing at 2 months of age and are then euthanized due to urinary tract pain and neurological sings including lethargy and hypersalivation. A mutation in the SLC3A1 gene has been identified with a possibly autosomal recessive mode of inheritance. Absence of the mutation in the SLC3A1 gene does not necessarily mean that cats will not develop cystinuria, due to 3 different mutations in the SLC7A9 gene which were also linked with cystinuria.
Inheritance: autosomal recessive - read more
Mutation: SLC3A1 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.