The detail information of Cystinuria
Basic Information

Disease Ontology ID: DDTO:0000191

Disease Description: An abnormal excretion of a substance (cystine) in the urine.

Inherit Mode: -

Disease Symptom: -

Disease Cause: -

Disease Diagnose: -

Treat Method: Cystine uroliths can be surgically removed or medically dissolved. Feeding a protein restricted diet low in methionine and increasing water intake will dilute the crystals, but salt should not be administered as increased sodium may increase urine cystine excretion. Increasing urine pH > 7.5 will increase solubility of crystals. Potassium citrate is preferred over sodium bicarbonate due to sodium's effect on increasing urine cystine. D-penicillamine changes cystine to more soluble form. D-penicillamine delays wound healing and should be avoided immediately after surgery if calculi are surgically removed. Alpha-mercaptopropionylglycine (MPG) has fewer side effects and appears to be more effective than D-penicillamine, but is not approved yet for use in dogs.

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Cystinuria, type I - A - Autosomal Recessive -
Cystinuria, type II - A - Autosomal Dominant -
Cystinuria, type II - B - Autosomal Dominant -
Cystinuria, type III - - - -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB49 Boykin Spaniel Friendly, eager, trainable, lovable 39.4-45.7 cm (male), 35.6-41.9 cm (female) 13.6-18.1 kg (male), 11.3-15.9 kg (female) United States
CB61 Canaan Dog Alert, vigilant, territorial; docile with family, aloof with strangers 50.8-61 cm (male), 48.3-58.4 cm (female) 20.4-24.9 kg (male), 15.9-20.4 kg (female) Middle East Lebanon - Israel
CB64 Carolina Dog Loyal, Independent, Reserved with Strangers 17.75-19.5 inches 30-55 pounds United States
CB111 German Short-Haired Pointer Friendly, smart, willing to please 58.4-63.5 cm (male), 53.3-58.4 cm (female) 24.9-31.8 kg (male), 20.4-27.2 kg (female) Germany
CB120 Great Pyrenees Calm, patient, smart; strong-willed yet affectionate 68.6-81.3 cm (male), 63.5-73.7 cm (female) 45.4 kg & up (male), 38.6 kg & up (female) France, Spain
CB133 Irish Water Spaniel Alert and inquisitive; hardworking and brave in the field, playful and affectionate at home 55.9-61 cm (male), 53.3-58.4 cm (female) 24.9-30.8 kg (male), 20.4-26.3 kg (female) Ireland
CB167 Norfolk Terrier Alert, fearless, fun-loving, and more sociable than the usual terrier 22.9-25.4 cm 5-5.4 kg United Kingdom
CB180 Perro de Presa Canario(Canary Mastiff) Confident, Calm, Strong-Willed 22-26 inches 84-110 pounds Spain
CB215 Sealyham Terrier Alert and outgoing; stubbornness is tempered by a sly sense of humor 26.7 cm 10.4-10.9 kg (male), slightly less (females) United Kingdom (Wales)
Associated Disease Variants from OMIA
Gene Differential Expression
References
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 .
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 .
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 .
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 .
2009 Houston,D.M.,Moore,A.E.: :
Canine and feline urolithiasis: Examination of over 50 000 urolith submissions to the Canadian veterinary urolith centre from 1998 to 2008. Canadian Veterinary Journal 50:1263–1268, 2009.
2006 Harnevik,L.,Hoppe,A.,Söderkvist,P.: :
SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Mamm Genome 17:769-76, 2006.
Pubmed reference: 16845473 . DOI: 10.1007/s00335-005-0146-4 .
2006 Matos,A.J.,Mascarenhas,C.,Magalhães,P.,Pinto,J.P.: :
Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography. J Vet Diagn Invest 18:102-5, 2006.
Pubmed reference: 16566266 .
2001 Hoppe,A.,Denneberg,T.: :
Cystinuria in the dog: Clinical studies during 14 years of medical treatment (vol 15, pg 361, 2001) Journal of Veterinary Internal Medicine 15:594, 2001.
2000 Henthorn,P.S.,Liu,J.L.,Gidalevich,T.,Fang,J.K.,Casal,M.L.,Patterson,D.F.,Giger,U.: :
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs Human Genetics 107:295-303, 2000.
Pubmed reference: 11129328 .
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 .
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 .
1995 Casal,M.L.,Giger,U.,Bovee,K.C.,Patterson,D.F.: :
Inheritance of cystinuria and renal defect in Newfoundlands. J Am Vet Med Assoc 207:1585-9, 1995.
Pubmed reference: 7493896 .
1993 Nash,A.S.: :
Canine Cystinuria - Something Old, Something New British Veterinary Journal 149:205-206, 1993.
Pubmed reference: 8334504 . DOI: 10.1016/S0007-1935(05)80167-8 .
1993 Hoppe,A.,Denneberg,T.,Jeppsson,J.O.,Kagedal,B.: :
Urinary Excretion of Amino Acids in Normal and Cystinuric Dogs British Veterinary Journal 149:253-268, 1993.
Pubmed reference: 8334507 . DOI: 10.1016/S0007-1935(05)80171-X .
1993 Hoppe,A.,Denneberg,T.,Jeppsson,J.O.,Kagedal,B.: :
Canine Cystinuria - An Extended Study on the Effects of 2- Mercaptopropionylglycine on Cystine Urolithiasis and Urinary Cystine Excretion British Veterinary Journal 149:235-251, 1993.
Pubmed reference: 8334506 . DOI: 10.1016/S0007-1935(05)80170-8 .
1940 Brand,E.,Cahill,G.F.,Kassell,B.: :
Canine cystinuria V. Family history of two cystinuria dogs and cystine determinates in dog urine Journal of Biological Chemistry 133:431-436, 1940.
1936 Brand,E.,Cahill,G.F.: :
Canine cystinuria. III Journal of Biological Chemistry 15:114-, 1936.
1823 Lassaigne,J.: :
Observation sur l'existence de l'oxide cystique dans un calcul vesical du chien, et essai analytique sur la composition élémentaire de cette substance particulière. Ann Chim Phys 23:328–334, 1823.