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Cystinuria (SLC3A1) Labrador Retriever Type Overview

Cystinuria (SLC3A1) Labrador Retriever Type
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Category: Urogenital (Associated with the Urinary and Genital Tracts)

Gene: SLC3A1

Variant Detected: deletion of a G

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

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.

Research Citation(s): J Vet Intern Med. 2013 Sep 3. doi: 10.1111/jvim.12176.

Associated Breed(s): Labrador Retriever,  Mixed Breed,  Labradoodle ,  Australian Labradoodle ,  Australian Cobberdog,