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

• Published in: Journal of Veterinary Medical Science 2019, Vol.81(7), pp.1006-1011
• Main Authors: SATO, Reeko, UCHIDA, Naohiro, KAWANA, Yuka, TOZUKA, Minako, KOBAYASHI, Saori, HANYU, Nana, KONNO, Yoshinobu, IGUCHI, Aiko, YAMASAKI, Yayoi, KURAMOCHI, Konomi, YAMASAKI, Masahiro
• Format: Article
• Language: English
• Subjects: Blood; Creatinine; Cysts; Epidemiology; Evaluation; feline polycystic kidney disease; hepatic cysts; Internal Medicine; Kidney diseases; Kidneys; Mutation; Mutation rates; PKD1 mutation; Polycystic kidney; Polycystic kidney disease 1 protein; Ultrasonic imaging; Ultrasound; Veterinary surgeons
• ISSN: 0916-7250; 1347-7439
• DOI: 10.1292/jvms.18-0309

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 (