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Cystinuria

General description

Cystinuria is caused by a defective transport of the amino acid cystine in the kidney tubules. Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death.

Breeds

Australian Cattle Dog, Australian-Labradoodle (Cobberdog), Continental Bulldog, English Bulldog, French Bulldog, Labradoodle, Labrador Retriever, Landseer, Mastiff, Miniature Pinscher, Newfoundland, Olde English Bulldogge

Detailed description

Cystinuria is an inherited disorder caused by a defective transport of the amino acid cystine in the kidney tubules. Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder. Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death.

Cystinuria type IIA

In Australian Cattle Dogs, the disease is inherited as a dominant trait whereby homozygous affected dogs has more severe symptoms than heterozygous carriers.

Order details
Test number8013
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexurological
Inheritanceautosomal dominant
Age of onset4-6 months
Causalitycausally
GeneSLC3A1
MutationDEL
LiteratureOMIA:001879-9615

Cystinuria type III

Cystinuria in the breeds Continental Bulldog, English Bulldog, French Bulldog, Mastiff and Olde English Bulldogge differs in that the disease becomes clinically apparent only in homozygously affected, intact, i.e. non-neutered, males. In these breeds, the occurrence of symptoms is linked to male sex hormones (androgens).

Order details
Test number8013
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexurological
Inheritanceautosomal recessive
Age of onset4-6 months
Causalityassociated
GeneSLC3A1
MutationA-G
LiteratureOMIA:001881-9615

Cystinuria type IA - Labrador Retriever

The symptoms described in the breed Labrador Retriever can be found in the text above.

Order details
Test number8013
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexurological
Inheritanceautosomal recessive
Age of onset4-6 months
Causalitycausally
GeneSLC3A1
MutationDEL
LiteratureOMIA:000256-9615

Cystinuria type IA - Newfoundland

The symptoms described in the breeds Landseer and Newfoundland can be found in the text above.

Order details
Test number8013
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexurological
Inheritanceautosomal recessive
Age of onset4-6 months
Causalitycausally
GeneSLC3A1
MutationC-T
LiteratureOMIA:000256-9615

Cystinuria type IB

The symptoms described in the Miniature Pinscher can be found in the text above.

Order details
Test number8013
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexurological
Inheritanceautosomal dominant
Age of onset4-6 months
Causalitycausally
GeneSLC7A9
MutationG-A
LiteratureOMIA:001880-9615