Breeds Affected: Persian, Himalayan, Birman, Exotic Shorthair, related breeds and mixes
Samples Accepted: Blood, Buccal Swabs
Disease Information: Polycystic kidney disease is characterized by the development of cysts in the kidney, eventually leading to chronic renal failure in middle-age to old animals. Published research estimates that between 36-38% of Persians world-wide are affected.
Inheritance Information: PKD is autosomal dominant, meaning that animals with just one copy of this allele will be affected. 50% of their offspring will also be affected.
The possible genotypes are:
n/n The cat is normal, and cannot produce affected offspring.
n/PKD The cat is affected, and 50% of the offspring will be affected.
PKD/PKD The cat is affected, and 100% of the offspring will also be affected.
– Affected animals (n/PKD, PKD/PKD) should not be used for breeding.
Test Information: This mutation test identifies a single base pair change in exon 29 of the PKD1 gene.
Lyons, LA., Biller, DS., Erdman, CA., Lipinski, MJ., Young, AE., Roe, BA., Qin, B., Grahn, RA.: Feline polycystic kidney disease mutation identified in PKD1. J Am Soc Nephrol 15:2548-55, 2004. Pubmed reference: 15466259. Doi: 10.1097/01.ASN.0000141776.38527.BB.
Further information is available at the Online Mendelian Inheritance in Animals website.