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

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.

Molecular detection of polycystic kidney disease in Persian and Persian-related breeds in Iran

“…Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common life-threatening inherited disorders in cats, especially in Persian and Persian-related breeds, with a prevalence of 16–49% worldwide. 1 Homozygous and heterozygous mutations are two forms of expression of feline ADPKD. Fetuses homozygous for the mutation will die before birth, whereas heterozygous cats remain clinically normal until failure of renal function occurs after a number of years (usually after 7 years of age).…”

Polycystic Kidney Disease in Rough Toothed Dolphins (Steno bredanensis) founded in the Paraná coast, Southern Brazil

“…Primarily, PKD pathogeny on humans is related to mutation on PKD1 and PKD2 gene locus, which has also been described in several animal species cases of ADPKD [1,6,12]. However additional factors, as renal ischemic injury and environmental disturbances were described involving cystic formation, progression, and severity [1,17].…”

“…They were submitted to routine necropsy and tissues fragments sampled for histopathological analysis, stained with hematoxylin and eosin (HE) 1,2,3,4 . Additionally, Masson's Trichrome 1,2,3,4,5,6 and Periodic Acid Schiff -McManus 1,2,3,4 stains were also performed to characterize connective tissue of renal lesions. Teeth samples were also collected to determine the age of the animals by dentine Growth Layer Groups (GLG) analysis.…”

Feline Polycystic Kidney Disease: An Update

“…The first study that analyzes the prevalence was carried out in the United States, where the prevalence of PKD in Persian cats was around 38% [11]. Later, other authors studied the prevalence in this breed in Australia (50%), the United Kingdom (49.2%), France (40.45%), Italy (41%), Slovenia (36%), Taiwan (15.7%), Iran (36.38%), Japan (46%) and Brazil (5%) [6,[12][13][14][15][16][17][18][19]. In these studies, no statistically significant differences were documented between males and females, suggesting that the inheritance of the disease is not sex-linked [14,20].…”

“…The main aim was to identify affected cats, create a registry of animals with the genetic tests, and thus allow breeders to select healthy animals in their breeding lines [23]. More recently, a study in Brazil indicates a significant decrease in feline PKD prevalence (5% in Persian cats), which could be related to the first success of genetic counseling [19]. However, more studies should be carried out to evaluate the repeatability of the data obtained and eliminate possible mistakes.…”