Cystinuria Type II-A is a hereditary disease which can be tested with a DNA test. Cystinuria is an inherited metabolic defect of amino acid transport in which cysteine, ornithine, lysine, and arginine are transported abnormally in kidneys and in the intestine. Normally cysteine is filtered in renal glomerulus and then reabsorbed back to the blood in tubules. As a consequence, only low concentration of cysteine is found in urine. Dogs with cystinuria do not absorb cysteine in kidney tubules, therefore they have abnormally high urine concentrations of cysteine. Cysteine is not soluble in alkaline or neutral pH, therefore its excess in urine forms crystals that lead to formation of cysteine stones in kidneys or bladder. Affected dogs often have inflammation of urinary system and have increased risk for urinary blockage which leads to kidney failure, rupture of bladder and death, if not treated immediately. 

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.