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Inheritance of cystinuria and renal defect in Newfoundlands
M L Casal1, U Giger, K C Bovee
1Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010, USA.
Journal of the American Veterinary Medical Association
|December 15, 1995
Summary
Cystinuria in Newfoundlands is an inherited condition causing bladder and kidney stones due to impaired amino acid reabsorption. Affected dogs and their relatives should not be bred as carriers are undetectable by routine tests.
Area of Science:
- Veterinary Nephrology
- Canine Genetics
- Urolithiasis Research
Background:
- Cystinuria is a metabolic disorder affecting amino acid transport in the kidneys.
- This condition can lead to the formation of cystine calculi, causing urinary obstruction in dogs.
- Understanding the genetic basis and clinical presentation is crucial for managing the disease in susceptible breeds like Newfoundlands.
Purpose of the Study:
- To delineate the clinical manifestations of cystinuria in Newfoundlands.
- To characterize the specific metabolic renal abnormalities associated with the condition.
- To determine the mode of inheritance of cystinuria in this breed.
Main Methods:
- A prospective study involving two Newfoundland families with 11 affected dogs.
- Urinalysis, nitroprusside spot tests, and calculi crystallography were performed.
- Urine and plasma amino acid concentrations, fractional excretion, and reabsorption rates were analyzed and compared between affected and normal dogs.
Main Results:
- Nine dogs presented with pure cystine bladder calculi, and four also had renal calculi.
- Affected dogs exhibited excessive urinary cystine excretion and impaired reabsorption of cystine, lysine, ornithine, and arginine.
- An autosomal recessive inheritance pattern was identified, with affected males and females produced from unaffected parents.
Conclusions:
- Routine urinalysis cannot identify carriers of cystinuria.
- Breeding of affected Newfoundlands, their parents, and offspring should be avoided to prevent disease transmission.
- Further research into carrier detection methods is warranted.