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This is an inherited disease affecting kidney function in dogs.
The SLC7A9 gene codes for a protein that allows the kidneys to transport cysteine and other amino acids from the urine.
Normal kidneys reabsorb cystine so that only small amounts pass into the urine, while dogs with mutations of both copies of the SLC7A9 gene fail to reabsorb cystine allowing high amounts to pass into the urine, hence the name cystinuria.
Cystine can form crystals and/or stones in the urinary tract which can block the ureters or uretha and stop the normal flow of urine.
Affected male dogs present with symptoms related to cysteine bladder stones around one year of age, however female dogs tend to develop symptoms later than males.
Symptoms of disease include straining to urinate, frequent urination of small volumes or inability to urinate.
In miniature pinschers, males and females are equally affected with excess cysteine in the urine, but obstruction of urine flow is more common in males due to differences in anatomy.
Dogs with cystinuria often have recurrent inflammation of the urinary tract and if not treated, urinary stones can cause urinary tract infections, kidney failure and even death.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
It is a trait and so is tested based on preference, not usually for health concerns.
Gene:
SLC7A9
Variant Detected:
c.964G>A
Mode of Inheritance:
Recomended Screening:
Research Citation(s):