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OMIA 001881-9615 : Cystinuria, type III in Canis lupus familiaris

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: This entry has been created in line with the new expanded classification system for canine cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9".

Clinical features: As summarised by Brons et al. (2013) cystinuria type III is characterised by: present only in males; androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≤4,000 in homozygotes.

Breeds: Irish Terrier, Mastiff, Scottish Deerhound.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 Kovaříková, S., Maršálek, P., Vrbová, K. :
Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years? Animals (Basel) 11:, 2021. Pubmed reference: 34438894. DOI: 10.3390/ani11082437.
2015 Bartges, J.W., Callens, A.J. :
Urolithiasis. Vet Clin North Am Small Anim Pract 45:747-68, 2015. Pubmed reference: 26002797. DOI: 10.1016/j.cvsm.2015.03.001.
2013 Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. :
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348. DOI: 10.1111/jvim.12176.
1999 Osborne, C.A., Sanderson, S.L., Lulich, J.P., Bartges, J.W., Ulrich, L.K., Koehler, L.A., Bird, K.A., Swanson, L.L. :
Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract 29:193-211, xiii, 1999. Pubmed reference: 10028158. DOI: 10.1016/s0195-5616(99)50011-9.

Edit History


  • Created by Frank Nicholas on 06 Sep 2013
  • Changed by Frank Nicholas on 06 Sep 2013