title: Polycystic kidney disease: a review and occurrence in Slovenia with comparison between ultrasound and genetic testing.
abstract: Polycystic kidney disease (PKD) is an inherited autosomal kidney disease which is most commonly identified in Persian and Persian related cats. Positive cats have multiple cysts of various sizes that occur in the renal cortex and medulla and occasionally in other abdominal organs. PKD often leads to renal failure which occurs from mid to late in life. Renal cysts can be diagnosed ultrasonographically after 7 weeks of age by an experienced ultrasonographer and a high resolution machine. However, ultrasonography is now being replaced by genetic screening. A total of 340 cats of variable breeds aged from 5 months to 18 years were ultrasonographically examined in the past 7 years at the University Veterinary Small Animal Clinic. Of these, 13.8% were PKD positive with very high prevalence in Persian cats (36%). There was no sex predilection identified. The C>A transversion at position 3284 on exon 29 of PKD1 gene, resulting in a stop mutation has been identified in the heterozygous state in eight affected cats examined (Persian breed). All heterozygous cats were also ultrasonographically positive.
authors.affiliation: Veterinary Faculty, University of Ljubljana, Clinic for Small Animal Medicine and Surgery, Gerbiceva 60, 1115 Ljubljana, Slovenia.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Domanjko-Petric
authors.forename: David
authors.initials: D
authors.lastname: Cernec
authors.forename: Marko
authors.initials: M
authors.lastname: Cotman
mesh_terms: D000818:Animals; D001483:Base Sequence; D002371:Cat Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D002415:Cats; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D007668:Kidney / Q000000981:diagnostic imaging*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D016133:Polymerase Chain Reaction / Q000379:methods / Q000662:veterinary; D015995:Prevalence; D012680:Sensitivity and Specificity; D017524:Slovenia / Q000453:epidemiology; D050396:TRPP Cation Channels; D014463:Ultrasonography
chemical_list: D050396:TRPP Cation Channels