Diagnosis of feline polycystic kidney disease by a combination of ultrasonographic examination and PKD1 gene analysis

Persian-related and non-Persian-related cats were examined by ultrasonography and/or molecular testing to determine the prevalence of feline polycystic kidney disease (PKD) and the presence of a PKD1 gene mutation. PCR was used to amplify exon 29 of the PKD1 gene using genomic DNA extracted from blood samples, and the PCR products were analysed by direct DNA sequencing. Among the 111 cats included in the study, 54 were examined by both ultrasonography and gene testing for a point mutation in exon 29 of the PKD1 gene. The prevalence of PKD diagnosed by ultrasonography was 25.9 per cent in all the cats and 24.2 per cent in Persian-related cats. The prevalence of the transversion mutation in exon 29 of the PKD1 gene was 13.5 per cent in all cats and 15.7 per cent in Persian-related cats. Three cats that were diagnosed with PKD by ultrasonography did not have the mutation within exon 29. Nucleotide analysis of exon 29 indicated that male cats had a higher point mutation rate than female cats.