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Cystinuria is a genetic disorder that leads to recurrent urolith (urinary stone) formation.
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General Information
Cystinuria is a genetic disorder that leads to recurrent urolith (urinary stone) formation. The disorder is associated with mutation in the genes SLC3A1 and SLC7A9 in French Bulldogs, English Bulldogs and Bullmastiffs. The mutations causes hyperexcretion of cystine in the urine and subsequent precipitation of cystine.
Clinical signs include cystine stones in the kidneys, ureters, and bladder. Once a stone is formed, the following main symptoms can occur: pain during urination (dysuria), urinary tract infections, inability to urinate and urinary tract obstructions.
Additional information
This test is based on a genome wide association study. This study described multiple DNA variants that may be related to cystinuria. Each DNA variant is a “risk factor”. The inheritance is not yet known, but an incompletely recessive pattern is suggested.
Clinical features
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