Cystinuria type I-A is an autosomal recessive metabolic disorder of amino acid transport (cystine, ornithine, lysine, arginine) in kidneys with only cystine causing clinical problems. It is characterized by failure of reabsorption of cystine in the proximal renal tubule, leading to cystine precipitation in the urine and formation of cystine crystals/stones in the kidneys, causing urolithiasis and urinary tract obstruction. The clinical signs occur early in dog’s life and progress with age, affecting more males than females due to a longer urinary tract of males. The symptoms include cystitis, haematuria, stranguria and lastly kidney failure.

Inheritance: autosomal recessive - read more

Mutation: SLC3A1 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.