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Cystinuria (SLC3A1) Labrador Retriever Type
Test Overview:
Cystinuria was one of the first identified inborn defects of metabolism. It is as an inherited defect of renal transport that included malabsorption of cystine and the dibasic amino acids ornithine, lysine and arginine, collectively known as COLA. In dogs it has been reported for the first time in 1823 and today it is known to affect more than 70 dog breeds. In the normally functioning kidney, amino acids and some other substances are filtered out of the blood, and then reclaimed from the urine. Malabsorption of COLA amino acids in the proximal renal tubules causes their high concentrations in the urine of the affected individual. Main problems are caused by low solubility of cystine in urine of acidic and neutral pH. High concentrations of cystine in urine and its low solubility leads to cystine crystals and bladder stones formation, known as uroliths. Uroliths in the urinary tract can result in stranguria, hematuria, urinary obstruction and renal failure with possible fatal outcome.
Category:
Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra
Gene:
Solute carrier family 3 member 1 (SLC3A1) on chromosome 10
Variant Detected:
Nucleotide Deletion c.350delG p.Gly117Alafs*41
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Recommended Screening:
Breeding animals should be screened prior to entering into breeding programs.
Research Citation(s):
Brons AK, et al. SLC3A1 and SLC7A9 Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System. (2013) J vet intern med, 27(6);1400-1408
Associated Breed(s):
Australian Cobberdog, Australian Labradoodle , Goldendoodle, Labradoodle , Labrador Retriever, Mixed Breed,
