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

Abstract

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/d l ) was greater in cats ≥3 years old, although a few cats ≥9 years of age had low plasma creatinine (<1.6 mg/d l ). The coincidence of renal and hepatic cysts was 12.6%, with the high prevalence in Persian cats (31%).

Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease

“…Since then, several studies have reported high disease prevalence in mainly Persian and Persian-related cat breeds: 49% in the United Kingdom, 43% in Germany and Australia, 42% in France, 36% in Slovenia, 41% in Italy, and 40% in Japan. 1 -3,7,8,13,26…”

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil

“…Considering the five Brazilian geopolitical regions and applying a molecular-based screening in a population of 616 cats, this study showed that the prevalence of ADPKD in Persian cats and related breeds was 5.03% and 1.6%, respectively. These results were different from those found in other countries, including the U.S., Australia, UK, France, Italy, Slovenia, Taiwan, Iran and Japan, which showed an estimated 15.7% to 50% of Persian cats and related breeds affected by ADPKD diagnosed by ultrasound exam or genetic testing (Cooper, 2000;Barrs et al, 2001;Beck and Lavelle, 2001;Cannon et al, 2001;Barthez et al, 2003;Kappe et al, 2005;Helps et al, 2007;Domanjko-Petrič et al, 2008;Bonazzi et al, 2009;Wills et al, 2009;Lee et al, 2010;Tavasolian et al, 2018;Noori et al, 2019;Sato et al, 2019).…”

“…Based on ultrasonographic and molecular methods, the prevalence of ADPKD among Persian, Persian-related breeds and mixed-breed cats has been shown to be approximately 38% in the United States (Cooper, 2000); 42% to 50% in Australia (Barrs et al, 2001;Beck and Lavelle, 2001), 49.2% in United Kingdom (UK) (Cannon et al, 2001), 40.45% in France (Barthez et al, 2003), 41% in Italy (Bonazzi et al, 2009), 36% in Slovenia (Domanjko-Petrič et al, 2008), 15.7% in Taiwan (Lee et al, 2010), 33.8% to 36.8% in Iran (Tavasolian et al, 2018;Noori et al, 2019), and 46% in Japan (Sato et al, 2019) with no difference between genders ( Barrs et al, 2001; Barthez et al, 2003). In Brazil, however, few studies have determined the prevalence of this disease in specific geographic regions (Ferreira et al, 2010).…”

A domestic cat whole exome sequencing resource for trait discovery

“…This cohort was searched to find novel candidate variants for three diseases and traits; feline autosomal dominant polycystic kidney disease (ADPKD), atrichia, hypotricha. ADPKD is a common inherited autosomal dominant disease affecting about 6% of the world’s cats 49 and is characterized by fluid-filled cysts that form in the bilateral kidneys that often leads to renal failure 50 . Many of the features of feline ADPKD are similar to human ADPKD and recent studies demonstrated the utility of the cat model 14 , 51 .…”