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Cystinuria

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Overview

Cystinuria is an autosomal recessive disease. It is caused by a mutation in the SLC3A1 gene exon 2, affecting the kidneys ability to transport the amino acid, cystine. Dogs with this condition have urine which contains abnormally high levels of Cystine resulting in the formation of crystals, which in turn can lead to the formation of cystine calculi (stones) in the kidney and/or the bladder. This can result in repeated urinary tract inflammations, and the risk of urinary blockage, which can lead to kidney failure, bladder rupture, and death. Cystinuria has a high degree of severity and greatly decreases the quality and lifespan of affected dogs if not treated. Dogs that show signs of a possible urinary tract infection should be tested, particularly if they are repeating symptoms. 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. While the disease is able to be managed with constant treatment and in severe cases repeated surgeries, Cystinuria can lead to ongoing medical issues and can greatly decrease the quality of life for your dog.

Genetic Testing Interpretation:

Not Detected
This dog does not carry the mutant gene. This dog will never develop Cystinuria and therefore it can be bred to any other dog.

Carrier
This dog carries one copy of the mutant gene and one copy of the normal gene. This dog will never develop Cystinuria but can pass the mutant gene on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected.

Affected
This dog carries two copies of the mutant gene. This dog will develop Cystinuria and will pass the mutant gene to all its offspring.

Breeds Affected

  • Labrador Retriever
  • Newfoundland
  • Landseer

Reference:

Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet (2000) 107:295-303

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