Peer-reviewed veterinary case report
Polycystic kidney disease gene variant found in related Sphynx cats
By Nowacka-Woszuk, Joanna et al.·Published in Topics in companion animal medicine·2024·Department of Genetics and Animal Breeding·View original on PubMed →
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Original publication title: First report on the presence of a common pathogenic variant in the PKD1 gene, causing polycystic kidney disease, in a series of related Sphynx cats.
- Species:
- cat
Plain-English summary
A group of related Canadian Sphynx cats was found to have polycystic kidney disease (PKD), a genetic condition that can lead to serious kidney problems. In this case, two sibling male cats and five of their kittens were examined using ultrasound, revealing kidney cysts in both adult cats and some of the kittens. The number of cysts varied from one to six in each affected kidney. Genetic testing confirmed that all cats with cysts carried a specific variant in the PKD1 gene linked to this disease. This discovery highlights the importance of genetic screening in breeding practices to prevent PKD in Sphynx cats.
People also search for: Sphynx cat kidney disease · polycystic kidney disease in cats · cat kidney cysts treatment
Abstract
Polycystic kidney disease (PKD) is the most common monogenic disease in cats, especially in Persian and related breeds. In this report we describe for the first time PKD in two related families (full sibling tomcats) of Canadian Sphynx cats. Altogether fourteen cats, including five kittens in each family, were investigated using ultrasonography. Cysts were observed in both tomcats and in five kittens (two and three in the litters). The number of cysts in a single kidney varied from one to six. A molecular search for the causative dominant pathogenic variant (Felis_catus_9.0, NC_018738.3: chr E3:g.42858112C>A (c.9882C>A)) in the PKD1 gene showed full concordance with clinical investigations: all cats with cysts in their kidneys were heterozygous (C/A) for this variant.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/39486512/