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Hereditary Nephropathy (English Springer Spaniel)

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Test Overview:

This is an inherited disorder of the kidneys affecting dogs. Normally protein is not present in the urine, but in affected dogs there is a defect that allows protein from the blood to be filtered by the kidneys and lost in the urine. Abnormal amounts of protein can be detected in the urine usually between 4-6 months of age. Symptoms of chronic kidney disease begin a few months after excessive protein is noted in the urine. Symptoms of chronic kidney disease include excessive thirst and urination, vomiting, inappetence, weight loss, weakness and fatigue. If drinking excessively, some dogs may also inappropriately urinate in the house. Affected dogs typically die of chronic kidney failure by one to two years of age.

Category:

Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra

Gene:

Collagen type IV alpha 4 chain (COL4A4) on chromosome 25

Variant Detected:

Base Substitution c.2806C>T p.Gln905STOP

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the COL4A4 gene will reliably determine if a dog is a genetic carrier of hereditary nephropathy (English springer spaniel).

Research Citation(s):

Nowend, KL. et al. Characterization of the genetic basis for autosomal recessive hereditary nephropathy in the English Springer Spaniel. (2012) J Vet Int Med 26;294-301.

Associated Breed(s):

English Springer Spaniel, Mixed Breed,

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