Disease overview

Cystinuria, Type IA is an inherited disorder that is characterized by dysfunction of cystine reabsorption in the kidney. As a result, cystine accumulates in the kidneys and bladder and leads to the formation of stones.

Gene name

SLC3A1

Inheritance

Autosomal recessive

Signs and symptoms

Without stone formation, affected dogs will show no signs. As the stone develops and causes irritation, clinical signs can include straining to urinate, frequent urination, urgency, and blood in the urine. Stone formation appears to be more common in males, typically forming between 6-14 months of age (females develop signs later). If an obstruction forms, urination will cease with frequent straining. This is an emergency situation.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Laboratory tests may be required, an ultrasound is needed to visualize any existing stones. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

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Citations

Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med. 2013 Nov-Dec;27(6):1400-8. doi: 10.1111/jvim.12176. Epub 2013 Sep 3. PMID: 24001348; PMCID: PMC3946761.

Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Hum Genet. 2000 Oct;107(4):295-303. doi: 10.1007/s004390000392. PMID: 11129328.

Casal ML, Giger U, Bovee KC, Patterson DF. Inheritance of cystinuria and renal defect in Newfoundlands. J Am Vet Med Assoc. 1995 Dec 15;207(12):1585-9. PMID: 7493896.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.