Epidemiological evaluation of cats associated with feline polycystic kidney disease caused by the feline PKD1 genetic mutation in Japan

J Vet Med Sci. 2019 Jul 19;81(7):1006-1011. doi: 10.1292/jvms.18-0309. Epub 2019 Jun 3.


Feline polycystic kidney disease (PKD), an inherited autosomal dominant disease, has been reported to occur mostly in Persian or Persian related cats, and to be associated with a mutation from C to A at position 10063 in exon 29 of the feline PKD1 gene (PKD1 mutation). Many clinical cases have been recognized in Japan, but the mutation rate in cats has not been reported. The objective of this study was to determine epidemiological characteristics and clinical features in cats with the PKD1 mutation. Referring veterinarians sent blood samples of 377 cats for the PKD1 gene evaluation. The blood samples were from 159 cats with renal cysts confirmed by ultrasonography, 60 cats without renal cysts, and 158 cats that did not undergo ultrasonography. In total, 150 cats carried the PKD1 mutation and the signalment, site and number of renal cysts, and results of blood test were evaluated in cats with the PKD1 mutation. The breeds with the highest rate of the PKD1 mutation were Persian (46%), Scottish Fold (54%) and American Shorthair cats (47%). However, mixed breed cats also showed high rates of the PKD1 mutation. Of cats with the mutation, the incidence of high plasma creatinine (≥1.6 mg/dl) was greater in cats ≥3 years old, although a few cats ≥9 years of age had low plasma creatinine (<1.6 mg/dl). The coincidence of renal and hepatic cysts was 12.6%, with the high prevalence in Persian cats (31%).

Keywords: PKD1 mutation; epidemiology; feline polycystic kidney disease; hepatic cysts.

MeSH terms

  • Animals
  • Cat Diseases / epidemiology*
  • Cat Diseases / genetics*
  • Cats
  • Creatinine / blood
  • Female
  • Genetic Predisposition to Disease*
  • Japan
  • Kidney / diagnostic imaging
  • Male
  • Mutation
  • Polycystic Kidney, Autosomal Dominant / epidemiology
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / veterinary*
  • TRPP Cation Channels / genetics
  • Ultrasonography / veterinary


  • TRPP Cation Channels
  • Creatinine