Affected gene: PKD1
Transmission: Autosomal dominant
Mutation: Felis_catus_9.0  E3  g.42858112C>A c.9882C>A
OMIA link: 000807-9685

Appropriate breeds for testing: Exotic Shorthair, Maine Coon, Ragdoll, Scottish Fold, Siberian

Symptoms: PKD is associated with renal failure, which occurs before the age of seven. The prevalence of PKD is approximately 6% of cats worldwide. Cats with polycystic kidney disease (PKD) have large, irregularly shaped kidneys containing multiple cysts.
Reference:
Bilgen, N., Bişkin Türkmen, M., Çınar Kul, B., Isparta, S., Şen, Y., Akkurt, M.Y., Çıldır, Ö.Ş., Bars, Z. :Prevalence of PKD1 gene mutation in cats in Turkey and pathogenesis of feline polycystic kidney disease. J Vet Diagn Invest 32:549-555, 2020. Pubmed reference: 32687010. DOI: 10.1177/1040638720935433.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.