Glossary

Screening Scheme Description

DNA test - CU
Cystinuria

Details about the disease

Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria (defective transport of the amino acid cystine in the kidney tubules) do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder. Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death.

Clinical signs

The average age of onset of clinical signs attributable to Cystinuria is about 4.8 years, but in Newfoundlands, signs appear as early as 6 months to 1 year, suggesting that Newfoundlands suffer from a more severe form of the disorder than other breeds.

How it is inherited?

The disease is described as an autosomal recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

Which laboratories test for this condition?

A list of laboratories and DNA tests can be found at the following link http://www.thekennelclub.org.uk/health/for-breeders/dna-testing-simple-inherited-disorders/worldwide-dna-tests/

How to responsibly breed from your DNA tested dog

If, once your dog is DNA tested, you would like to find out what their DNA test results mean, or how to select the right mate to avoid producing affected puppies, then please read our breeding advice and information on the following link http://bit.ly/2oSbtnn.

How to find out if a potential mate has been DNA tested

The Kennel Club’s “Health Test Results Finder” allows you to find the results of DNA tests carried out as part of official Kennel Club DNA testing schemes for any dog on the Kennel Club’s breed register. To access this free health tool, please follow this link http://bit.ly/1jyCFnc.

 

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