Peer-reviewed veterinary case report
PCR test detects polycystic kidney disease in Persian cats
By Scalon, Marcela C et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2014·College of Agronomy and Veterinary Medicine, Brazil·View original on PubMed →
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Original publication title: Touchdown polymerase chain reaction detection of polycystic kidney disease and laboratory findings in different cat populations.
- Species:
- cat
Plain-English summary
A group of cats, including many Persian cats, were tested for a genetic condition called autosomal-dominant polycystic kidney disease (ADPKD), which can lead to kidney problems. Out of 334 cats tested, about 9% had the genetic mutation linked to this disease, with a higher rate of 33% among Persian cats. The study found that positive cats often had elevated levels of certain proteins in their blood, indicating potential health issues. This new testing method can help identify cats at risk for ADPKD, allowing for earlier monitoring and care.
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Abstract
Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent inherited genetic disease of cats, predominantly affecting Persian and Persian-related cats. A point mutation (C→A transversion) in exon 29 of the PKD1 gene causes ADPKD, and is the specific molecular target for genetic diagnosis in cats. The current study describes a newly developed touchdown polymerase chain reaction (PCR) to detect this single point mutation, using 2 primers specific for the mutant allele, adapted from an existing multiplex amplification refractory mutation system (ARMS PCR). Furthermore, correlations between the clinical outcomes of tested animals and the results of the genetic test were investigated. A total of 334 cats were tested, 188 from the Veterinary Hospital of Small Animals at the University of Brasilia, and 146 from an anti-rabies vaccine campaign of the Federal District. A total prevalence of 9% was evident among the samples, with 33% of the Persian cats testing positive, and 7% of the Brazilian long- and shorthaired cats testing positive. Prevalence was not correlated with gender or hemogram. Positive animals exhibited hyperglobulinemia ( P = 0.02). This research demonstrated that the mutation does not only occur in Persian and Persian-related cats, and that a touchdown PCR can be used to diagnose ADPKD.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/24916445/